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....

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Detalles Bibliográficos
Autores principales: Liu, Jia-Wei, Si, Nuo, Wang, Lian-Qing, Shen, Ti, Zeng, Xue-Jun, Zhang, Xue, Ma, Dong-Lai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Original Article
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

Internet

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

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