Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

Pallister-Hall syndrome is a human developmental disorder that is inherited in an autosomal dominant pattern. The phenotypic features of the syndrome include hypothalamic hamartoma, polydactyly, imperforate anus, laryngeal clefting, and other anomalies. Here we describe the clinical characterisation...

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Hlavní autoři: Kang, S, Allen, J, Graham, J M, Grebe, T, Clericuzio, C, Patronas, N, Ondrey, F, Green, E, Schäffer, A, Abbott, M, Biesecker, L G
Médium: Artigo
Jazyk:Inglês
Vydáno: 1997
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050964/
https://ncbi.nlm.nih.gov/pubmed/9192261
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