نتایج جستجو برای: autosomal
تعداد نتایج: 32291 فیلتر نتایج به سال:
BACKGROUND Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD repeat protein 62 are associated with autosomal recessive primary microcephaly with cortical malformations. This study was initiated to screen WDR62 mutations in four consang...
Familial burning feet syndrome inherited as an autosomal dominant trait has been described in only one family. Due to an associated sensory neuropathy the autosomal dominant burning feet syndrome was suggested to represent a variant form of hereditary sensory and autonomic neuropathy type I (HSAN I). Clinical, histopathological, and molecular genetic studies were performed in a large German kin...
Polycystic kidney disease is a multisystemic familial inherited disease. A symptomatic treatment approach the standard modality for autosomal dominant polycystic (ADPKD) complications and life-long 50% chronic renal failure risk, as transplantation only definitive treatment.
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