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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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| Vydáno v: | Case Rep Genet |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Hindawi
2019
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| Témata: | |
| On-line přístup: | 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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