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Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome
BACKGROUND: H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin, as well as other systemic manifestations. Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India....
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830313/ https://www.ncbi.nlm.nih.gov/pubmed/25963354 http://dx.doi.org/10.4103/0366-6999.156778 |