New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

BACKGROUND: CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Med Genet
Prif Awduron: Blanco-Kelly, Fiona, Rodrigues-Jacy da Silva, Luciana, Sanchez-Navarro, Iker, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel Angel, Corton, Marta, Ayuso, Carmen
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2017
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5219735/
https://ncbi.nlm.nih.gov/pubmed/28061825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0364-5
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