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...

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Detalles Bibliográficos
Autores principales: Blanco-Kelly, Fiona, Rodrigues-Jacy da Silva, Luciana, Sanchez-Navarro, Iker, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel Angel, Corton, Marta, Ayuso, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219735/
https://www.ncbi.nlm.nih.gov/pubmed/28061825
http://dx.doi.org/10.1186/s12881-016-0364-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219735/
https://www.ncbi.nlm.nih.gov/pubmed/28061825
http://dx.doi.org/10.1186/s12881-016-0364-5

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