New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis.
作者信息
Giuffrè L, Corsello G, Giuffrè M, Piccione M, Albanese A
机构信息
Istituto Materno Infantile, Università di Palermo, Italy.
出版信息
Am J Med Genet. 1994 Jul 1;51(3):266-9. doi: 10.1002/ajmg.1320510319.
PMID:8074157
Abstract
To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1).
摘要
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