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3 Possible Causes for All Reported Cases Result from De Novo Mutation

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  • Mowat-Wilson Syndrome

    All reported cases of this syndrome have been sporadic, resulting from de novo deletion or heterozygous mutation of the ZFHX1B gene.[doi.org]

  • X-Linked Intellectual Disability Type Cantagrel

    reported cases result from de novo mutation (last curated July 2014) MOLECULAR BASIS: Caused by mutation in the DNA methyltransferase 3A gene (DNMT3A, 602769.0001) Pseudohypoparathyroidism[findzebra.com] […] common) SKELETAL: [Spine]; Scoliosis (less common) NEUROLOGIC: [Central nervous system]; Intellectual disability, mild to moderate; Seizures (less common) MISCELLANEOUS: All[findzebra.com]

  • Familial Infantile Myasthenia

    Although true sporadic cases resulting from de novo mutations have been reported 10, 11, the majority of seemingly sporadic presentations are thought to be due to an inadequate[nature.com] Nevertheless, these four disease-causing genes do not account for all cases of PFBC, indicating additional genetic heterogeneity.[nature.com] To date, mutations in SLC20A2, PDGFRB, PDGFB, and XPR1 have been reported to be responsible for PFBC and have been detected in both familial and sporadic cases 6, 7, 8, 9.[nature.com]

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