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Pallister-Hall Syndrome Presenting in Adolescence

Pallister-Hall syndrome (PHS) is an extremely rare syndrome of unknown prevalence with autosomal dominant inheritance due to GLI3 gene mutations classically characterized by the presence of a hypothalamic hamartoma and polydactyly. Additional diagnostic criteria include bifid epiglottis, imperforate...

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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Mahtabfar, Aria, Buckley, Niall, Murphy, Susan, Danish, Shabbar, Marshall, Ian
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6442444/
https://ncbi.nlm.nih.gov/pubmed/31011455
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/6845836
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