The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphala...

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Bibliographische Detailangaben
Hauptverfasser: Molho-Pessach, Vered, Lerer, Israela, Abeliovich, Dvorah, Agha, Ziad, Abu Libdeh, Abdulasalam, Broshtilova, Valentina, Elpeleg, Orly, Zlotogorski, Abraham
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2008
Schlagworte:
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2561939/
https://ncbi.nlm.nih.gov/pubmed/18940313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.09.013
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