Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

Pallister-Hall syndrome (PHS) was originally described in 1980 in six sporadic cases of children with structural anomalies including hypothalamic hamartoma, polydactyly, imperforate anus, and renal and pulmonary anomalies. In 1993, the first familial cases were reported, including affected sibs and...

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Main Authors: Biesecker, L G, Kang, S, Schäffer, A A, Abbott, M, Kelley, R I, Allen, J C, Clericuzio, C, Grebe, T, Olney, A, Graham, J M
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050790/
https://ncbi.nlm.nih.gov/pubmed/8950676
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