نتایج جستجو برای: autosomal dominant

تعداد نتایج: 147542  

Journal: :Journal of medical genetics 1998
E Reid F Douglas Y Crow A Hollman J Gibson

Juvenile recurrent parotitis is a common cause of inflammatory salivary gland swelling in children. A variety of aetiological factors has been proposed for the condition. Here we present a family where four members had juvenile recurrent parotitis and where two other family members may have had an atypical form of the condition. The segregation pattern in the family is consistent with autosomal...

Journal: :The Quarterly journal of medicine 1991
S T Reeders

The lack of reliable data on frequency, age of onset, survival, spontaneous mutation rate and prognosis in autosomal dominant polycystic kidney disease is a continual source of frustration to physicians involved in counselling patients and their relatives. The only major study to address all of these issues in a defined population was presented by Dalgaard as a 251-page doctoral thesis in 1957 ...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1999
F Stögbauer P Young G Kuhlenbäumer R Kiefer V Timmerman E B Ringelstein J F Wang J M Schröder C Van Broeckhoven J Weis

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...

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