The Dyggve-Melchior-Clausen syndrome in adult siblings.
作者信息
Bonafede R P, Beighton P
出版信息
Clin Genet. 1978 Jul;14(1):24-30. doi: 10.1111/j.1399-0004.1978.tb02056.x.
Abstract
The clinical and radiographic features of three adult siblings with mental deficiency and dwarfism due to the Dyggve-Melchior-Clausen syndrome are documented. The consanguinity of the unaffected parents is further evidence to support the concept of autosomal recessive inheritance of this disorder. The fact that this is the fifth reported kindred of Lebanese extraction emphasises the geographic predilection of the abnormal genes.
摘要
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