| Literature DB >> 1126054 |
M A Toro-Sola, M L Kistenmacher, H H Punnett, A M DiGeorge.
Abstract
Focal dermal hypoplasia (Goltz syndrome) is characterized by a pathognomonic abnormality of the skin in association with other congenital defects. There are only seven males among the 52 reported cases. We report the eighth case in a male and evaluate the possible genetic origin of the syndrome. A critical review of the literature provides no evidence for the previously accepted single gene mode of inheritance.Entities:
Mesh:
Year: 1975 PMID: 1126054 DOI: 10.1111/j.1399-0004.1975.tb00336.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438