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Results 1 - 8 of 8 for Hearing "loss," autosomal dominant 77
  1. ... report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol. 2009 Apr;18(2):67-77. doi: 10.1097/MCD.0b013e328323a7dd. Citation on PubMed ...
  2. ... are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the ... by the severity of their signs and symptoms.Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg ...
  3. ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
  4. ... SDHD Hereditary paraganglioma-pheochromocytoma is inherited in an autosomal dominant pattern, which means one copy of the altered ... Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet. 2000 Nov;26( ...
  5. ... spondylo-megaepiphyseal dysplasia Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal dominant Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal ...
  6. ... CYLD Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance, which means one copy of ...
  7. ... understood. EFTUD2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
  8. ... CAPS. NLRP3 CAPS are usually inherited in an autosomal dominant pattern, which means one copy of the altered ...