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14 Possible Causes for All Reported Mutations Have Occurred De Novo, Pediatric Disorder

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  • Cerebro-Costo-Mandibular Syndrome

    A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[link.springer.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] TIS is a disorder where severe problems in how the chest, spine, and ribs are formed prevent normal breathing and lung development.[rarediseases.org]

  • Hypopituitarism

    Bode HH: Disorders of posterior pituitary; in Kaplan SA (ed): Clinical Pediatric Endocrinology. Philadelphia, Saunders, 1990, pp 63–86.[dx.doi.org] All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org] J Pediatr 2002;140:252–255. Blotner H: Primary or idiopathic diabetes insipidus: a system disease. Metabolism 1958;3:191–200.[dx.doi.org]

  • Optic Atrophy

    George's Healthcare NHS Trust, London, UK. 17 VMP Genetics, LLC, Atlanta, Georgia, USA. 18 University of Georgia, Athens, Georgia, USA. 19 Center for Rare Childhood Disorders[ncbi.nlm.nih.gov] Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov] , Translational Genomics Research Institute, Phoenix, Arizona, USA. 20 Department of Pediatrics, Columbia University Medical Center, New York, New York, USA. 21 Nyack Hospital[ncbi.nlm.nih.gov]

  • Dystrophic Epidermolysis Bullosa

    It groups skin diseases and lesions with other disorders and with systemic diseases, drug-related diseases, malignancies, and special conditions (nutritional disorders, pregnancy[books.google.com] All cases with localised DDEB have not necessarily been documented or registered in DEB databases and therefore those mutation reports are limited.[medicaljournals.se] […] approach to the differential diagnosis of lesions, with diseases subclassified according to characteristics (vascular, infectious, and so on), as well as a separate section on pediatric[books.google.com]

  • Lissencephaly

    These can be classified into pediatric neurological diseases, hereditary diseases affecting sensory organs, mental disorders and late-onset neurodegenerative disorders.[blogs.biomedcentral.com] So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases.[ncbi.nlm.nih.gov] Author information 1 Division of Pediatric Neurology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.[ncbi.nlm.nih.gov]

  • Helsmoortel-van der Aa Syndrome

    Curr Opin Pediatr 14(6):678-83, 2002. 57. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-9, 2007. 58. Greenberg F.[siicsalud.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] disorders of various degrees was even slightly higher than the reported 27% achieved by WES [ 17 ].[journals.plos.org]

  • Geleophysic Dysplasia

    Diagnosis of this disorder is based on clinical and radiographic criteria. Until now only 60 cases have been reported in the literature.[bone-abstracts.org] All reported mutations have occurred as new (sporadic or de novo ) mutations, which means that in these cases the gene mutation has occurred at the time of the formation of[rarediseases.org] J Pediatr 117:227–232 PubMed Google Scholar 7. Spranger J, Gilbert EF, Tuffli GA, Rossiter FP, Opitz JM (1971) Geleophysic dwarfism: a ‘focal’ mucopolysaccharidosis?[link.springer.com]

  • Anophthalmia - Microphthalmia Syndrome

    Strongly associated with chromosome abnormalities and single-gene disorders. Karyotype is indicated.[mhmedical.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] Refer for consultation with medical geneticist and pediatric ophthalmologist. Progress depends on severity of eye defects and presence of associated anomalies.[mhmedical.com]

  • GOMBO Syndrome

    Kovács Recent advances in pediatric laboratory medicine. Guest Editor: Edgard Delvin Pediatric obesity and cardiometabolic disorders: risk factors and biomarkers. E.[infobioquimica.com] All reported mutations have occurred as new (sporadic or de novo ) mutations, which means that in these cases the gene mutation has occurred at the time of the formation of[rarediseases.org] Delvin Pediatric Metabolic Syndrome: pathophysiology and laboratory assessment.[infobioquimica.com]

  • Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

    Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine[imedpub.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] Explore the impact of today’s advances and challenges, including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric[books.google.com]

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