H syndrome: 5 new cases from the United States with novel features and responses to therapy

BACKGROUND: H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations. The syndrome is caused by mutations in SLC29A3, a gene located on chromosome 10q23, which encodes the human equilibrative tran...

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Detalles Bibliográficos
Autores principales: Bloom, Jessica L., Lin, Clara, Imundo, Lisa, Guthery, Stephen, Stepenaskie, Shelly, Galambos, Csaba, Lowichik, Amy, Bohnsack, John F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645937/
https://www.ncbi.nlm.nih.gov/pubmed/29041934
http://dx.doi.org/10.1186/s12969-017-0204-y

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