A yet-unknown mutation of the JAG1 gene was discovered in this family with variable expression of Alagille syndrome.
[ncbi.nlm.nih.gov]
Alagille Syndrome (OMIM 118450) is a multisystem developmental disorder inherited in an autosomal dominant pattern with variable expression.
[ncbi.nlm.nih.gov]
It is autosomic dominant with variable expressivity, or sporadic. Neonatal cholestasis is a main feature, due to the paucity of intrahepatic bile ducts.
[ncbi.nlm.nih.gov]
The branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an inadequate development
[pure.udem.edu.mx]
Branchio-oculo-facial syndrome (BOFS) is a rare autosomal dominant condition with variable expressivity, caused by mutations in the TFAP2A gene.
[ncbi.nlm.nih.gov]
We report three members of one family, showing great variability in its phenotypic expression and review the recent literature.
[ncbi.nlm.nih.gov]
Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity, but about one-third of the cases do arise spontaneously.
[mjdrdypu.org]
Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity.
[dolphintherapy.eu]
Due to variable expressivity all findings are not present in one patient. This disorder is known to run in families with an equal frequency in both sexes.
[e-ijd.org]
This disease has an autosomal dominant inheritance pattern with complete penetrance and extremely variable expressivity.
[moh-it.pure.elsevier.com]
Clinical findings showed variable expressivity in terms of age at onset and disease severity.
[moh-it.pure.elsevier.com]
expressivity and incomplete penetrance.
[telethon.it]
[…] characterized by a slow progression of proximal muscle weakness in both upper and lower limbs affecting several members of a four generations Italian AD pedigree presenting variable
[telethon.it]
[…] report a 4-generation Hispanic family with oculodentodigital dysplasia whose members were found to have typical phenotypic characteristics of this disorder, as well as a variable
[ncbi.nlm.nih.gov]
The variable expression of the gene in the three affected members is clearly demonstrable.
[ncbi.nlm.nih.gov]
expression of neurologic manifestations in multiple generations ranging from a mild spastic gait to moderate to severe spastic tetraparesis/quadriplegia with epilepsy and
[ncbi.nlm.nih.gov]
The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivity.
[ncbi.nlm.nih.gov]
Due to this variable expression, various modalities to treat popliteal webbing exist.
[ncbi.nlm.nih.gov]
Because of the wide variability of expression of popliteal pterygium syndrome, careful physical evaluation of available family members should be made in sporadic cases to
[ncbi.nlm.nih.gov]
@article{Feigenbaum2013SingletonMertenSA, title={Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.}, author={Annette Feigenbaum and Christine
[semanticscholar.org]
Affiliations PMID: 23322711 DOI: 10.1002/ajmg.a.35732 Singleton-Merten syndrome: an autosomal dominant disorder with variable expression Annette Feigenbaum et al.
[pubmed.ncbi.nlm.nih.gov]
Abstract Singleton Merten syndrome (SMS) is a rare autosomal dominant genetic disorder with variable expression.
[unboundmedicine.com]
Home Documents Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?
[documents.tips]
Affiliations PMID: 16096999 DOI: 10.1002/ajmg.a.30878 Review Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder
[pubmed.ncbi.nlm.nih.gov]
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?
[citethisforme.com]
Affiliations PMID: 16096999 DOI: 10.1002/ajmg.a.30878 Review Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder
[pubmed.ncbi.nlm.nih.gov]
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
[disorders.eyes.arizona.edu]
Titomanlio L et al (2005) Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
[altmeyers.org]
Several mutations with variable expression of the syndrome are reported.
[squ.pure.elsevier.com]
Novel mutation in Wolcott–Rallison syndrome with variable expression in two Omani siblings. Oman Medical Journal, 30(2), 138-141. https://doi.org/10.5001/omj.2015.29
[squ.pure.elsevier.com]
His younger sister also had WRS but with milder expression.
[squ.pure.elsevier.com]
Here we report variable clinical expression of Holt-Oram syndrome in three generations.
[ncbi.nlm.nih.gov]
Holt-Oram has 100% penetrance and variable expressivity.
[radiologykey.com]
Affected individuals present with irritable eyes and dryness of the mouth with variable expressivity.
[ncbi.nlm.nih.gov]
[…] lacrimal and salivary glands (ALSG) is a rare autosomal dominant inherited disease, characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary systems with variable
[ncbi.nlm.nih.gov]
Variable Phenotype Expressions among Axenfeld- Rieger Syndrome Family Members Harboring Mutation in Same Genetic Loci Gautam Lokdarshi, Bhagabat Nayak, Anuradha Chandra Dr
[casereports.in]
Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder with variable expressivity.
[ncbi.nlm.nih.gov]
Available from: http://www.casereports.in/articles/5/1/Variable-Phenotype-Expressions-among-Axenfeld-Rieger-Syndrome-Family-Members-Harboring-Mutation-in-Same-Genetic-Loci.html
[casereports.in]
Hereditary lymphedema generally shows an autosomal dominant pattern of inheritance with reduced penetrance, variable expression and variable age at onset.
[ncbi.nlm.nih.gov]
expression of recurrent episodes of cellulites, toenail changes, and papillomatosis.
[ncbi.nlm.nih.gov]
[…] type I (HL-I), also known as Milroy disease, is an autosomal dominant disorder characterized by typical phenotype of infantile onset lower-limb lymphedema accompanied by variable
[ncbi.nlm.nih.gov]
[…] individuals in 3 generations showing variable expressivity of UMS Key words: Ulnar Mammary Syndrome Pallister Syndrome Polydactyly Oligodactyly Hypoplasia Of Apocrine Glands
[agris.fao.org]
Therefore, our report also supports the variable expressivity of UMS within the same family.
[ncbi.nlm.nih.gov]
It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression.
[ncbi.nlm.nih.gov]
Keywords: Beaded hair, monilethrix, variable expressivity How to cite this article: Bindurani S, Rajiv S. Monilethrix with variable expressivity.
[ijtrichology.com]
Autosomal dominant transmission has been demonstrated in numerous large pedigrees. [1],[2],[3] The gene appears to have high penetrance, but variable expressivity. [1] The
[ijtrichology.com]
Best vitelliform macular dystrophy (VMD), or Best disease, is an autosomal-dominant disorder with variable penetrance and expressivity, characterized by variable...
[atlasrleye.com]
However, the evidence for the ocular type described here as a distinct entity remains slim and the clinical picture may simply reflect variable expressivity of mutations in
[disorders.eyes.arizona.edu]
Best vitelliform macular dystrophy (VMD), or Best disease, is an autosomal-dominant disorder with variable penetrance and expressivity, characterized by variable deposition
[atlasrleye.com]
The syndrome appears to demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance and variable expressivity.
[ncbi.nlm.nih.gov]
Genetic counseling MRKH syndrome was thought to be purely sporadic but familial cases seem to be inherited autosomal dominantly with incomplete penetrance and variable expressivity
[orpha.net]
expressivity.
[orpha.net]
ITEM METADATA RECORD Title: The hand-foot-genital syndrome - on the variable expression in affected males Authors: Fryns, Jean-Pierre × Vogels, Annick De Cock, Paul Van den
[lirias.kuleuven.be]
expression in affected males. ( 8375102 ) Fryns J.P....Van den Berghe H. 1993 20 Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities
[malacards.org]
[…] syndrome. ( 9020844 ) Mortlock D.P....Innis J.W. 1997 18 Hand-Foot-Genital Syndrome ( 20301596 ) Pagon R.A....Stephens K. 1993 19 The hand-foot-genital syndrome: on the variable
[malacards.org]
Variable expressivity is a well-known phenomenon in this disorder.
[ncbi.nlm.nih.gov]
The syndrome follows an autosomal dominant mode of transmission with complete penetrance and variable expressivity.
[ncbi.nlm.nih.gov]
Heritability: Autosomal dominant inheritance Clinical Modifiers: Variable expressivity AKA: Chotzen Syndrome, SAETHRE-CHOTZEN SYNDROME; SCS, Blepharophimosis, Epicanthus Inversus
[monarchinitiative.org]
expression, characterized by ectopia of the lens and the pupil, usually bilateral and symmetrical, but without systemic manifestations.
[oasisbr.ibict.br]
The Ectopia lentis et pupillae is a rare genetic syndrome, congenital, autosomal recessive with variable expression, characterized by ectopia of the lens and the pupil, usually
[scienceopen.com]
[…] de Caso junho 01, 2011 junho 01, 2011 DOI: 10.1590/S0034-72802011000300010 The Ectopia lentis et pupillae is a rare genetic syndrome, congenital, autosomal recessive with variable
[rbojournal.org]
OS-CS is thought to be autosomal dominant with complete penetrance and variable expressivity.
[ncbi.nlm.nih.gov]
This case illustrates an early presentation of severe OSCS in a female without skewing of the X-chromosome inactivation pattern, emphasizing the variable expressivity of this
[ncbi.nlm.nih.gov]
The inheritance pattern is considered autosomal dominant with incomplete penetrance and variable expressivity. No genetic background or molecular data are available.
[accessanesthesiology.mhmedical.com]
Bartsocas-Papas syndrome with variable expressivity in an Egyptian family. Genet Couns. 2012;23:269-279.
[casereports.in]
Rosenman et al [5, 6 ] divided AFA into four subgroups and indicated that groups I and II were sporadic and groups III and IV were autosomal dominant with variable expressivity
[djo.org.in]
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.
[uniprot.org]
expressivity and incomplete penetrance, making the correct clinical assignment difficult.
[journals.lww.com]
Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. Am J Med Genet 1987;27(1):207-12. Bowen P, Armstrong HB.
[bioline.org.br]
Abstract Ectrodactyly is a rare dominant autosomal malformation with variable expression.
[ncbi.nlm.nih.gov]
They can be a part of various syndromes, and are more often transmitted with dominant autosomal Inheritance with variable expression and Incomplete penetrance.
[ncbi.nlm.nih.gov]
The majority of cases are reported to be autosomal dominant with variable expression and penetrance. The most common clinical feature is ectodermal dysplasia.
[ncbi.nlm.nih.gov]
The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. Cleft Palate J. 1980 Jan. 17(1):52-7. [Medline].
[emedicine.medscape.com]
The dentist may be the first person to diagnose this syndrome, and therefore, should be aware of its variable expressions.
[jorr.org]
expression of the Van der Woude syndrome.
[repositorio.unicamp.br]
Autosomal dominant inheritance with variable expressivity has been reported in several cases.
[eprints.soton.ac.uk]
Variable expressivity and pleiotropism characterized this syndrome and two types may exist.
[nature.com]
These general texts may not apply to specific cases, due to the extensive variability of disease expression.
[orpha.net]
Variable Phenotype Expressions among Axenfeld- Rieger Syndrome Family Members Harboring Mutation in Same Genetic Loci Gautam Lokdarshi, Bhagabat Nayak, Anuradha Chandra Dr
[casereports.in]
ARS is fully penetrant but shows variable expression, even within a family.
[genedx.com]
