Two new cases of Cumming syndrome confirming autosomal recessive inheritance.
作者信息
Pérez del Río M J, Fernández-Toral J, Madrigal B, González-González M, Ablanedo P, Herrero A
机构信息
Department of Pathology, Central Hospital, University of Oviedo, Asturias, Spain.
出版信息
Am J Med Genet. 1999 Feb 12;82(4):340-3. doi: 10.1002/(sici)1096-8628(19990212)82:4<340::aid-ajmg12>3.0.co;2-w.
Abstract
We report on two stillborn sisters with generalized hydrops, campomelia, cervical lymphocele, and polycystic dysplasia of kidney, liver, and pancreas. This syndrome conforms to that first described by Cumming et al. [Am. J. Med. Genet. 25:783-790, 1986]. This observation provides additional support for the notion that this syndrome has an autosomal recessive pattern of inheritance.
摘要
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