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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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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Elsevier
2008
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| Schlagworte: | |
| 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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