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434 Possible Causes for Variable Expressivity within a Family

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  • Hypogonadotropic Hypogonadism Type 8

    First, disease-associated mutations display striking incomplete penetrance and variable expressivity within and across IHH families.[karger.com]

  • Osteopathia Striata

    Savarirayan R et al. (1997) Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family. [ ] 8.[moldiag.com] Winter RM et al. (1980) Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases. [ ] 19.[moldiag.com]

  • Fracture

    In addition, the presentation of the disease within affected members of the same family can be quite variable.[pediatrics.aappublications.org] Although it is a genetic disorder, many children have de novo mutations or autosomal-recessive disease and no family history of bone fragility.[pediatrics.aappublications.org] Phenotypic expression of the disease depends on the nature of the mutation, its relative abundance attributable to mosaicism, and its expression in target tissues. 55 Some[pediatrics.aappublications.org]

  • Benign Migratory Glossitis

    Most forms of the disease show incomplete penetrance of the phenotype and variable expressivity of bleeding symptoms within families. [53] In contrast, the severe type 3 form[doi.org] It is transmitted as an autosomal-dominant trait and thus there may be evidence of a family history of excessive bleeding.[doi.org]

  • Klebsiella

    Changes in membrane permeability and drug flux can be influenced by variable expression and regulation of the efflux pumps [ 11 ].[intechopen.com] Within the Enterobacteriaceae Gram-negative bacteria, a significant bacterial efflux pump family is the resistance nodulation division (RND) [ 6, 65, 106, 108 ].[intechopen.com]

  • Infantile Convulsions and Choreoathetosis

    Genetic counseling ICCA syndrome can present as sporadic or familial; in the latter case, it is transmitted as an autosomal dominant trait that can be variably expressed within[orpha.net] […] the same family.[orpha.net]

  • Muckle-Wells Syndrome

    Genetic counseling Transmission is autosomal dominant with variable expression within a family and from one family to another.[orpha.net]

  • Cardiomyopathy

    […] of LVNC is variable, even within families: with or without symptoms, heart failure, atrial and ventricular arrhythmias or preexcitatory pathways, thromboembolic events, or[doi.org] . 25 The natural history of LVNC remains incompletely resolved because of its relatively recent recognition with a short available follow-up period. 26 – 34 The clinical expression[doi.org]

  • Milium

    Persistent milia, steatocystoma multiplex and eruptive vellus hair cysts: variable expression of multiple pilosebaceous cysts within an affected family.[dovemed.com]

  • Microtia

    , and familial occurrence within an sporadic or autosomal dominant (rarely recessive) inheritance mechanism.[symptoma.com] MI often presents as a mild form of GS and share the following characteristics: variable phenotypic expression, asymmetric facial anatomy, right side preponderance, male predilection[symptoma.com]

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