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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Blanco-Kelly, Fiona, Rodrigues-Jacy da Silva, Luciana, Sanchez-Navarro, Iker, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel Angel, Corton, Marta, Ayuso, Carmen
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2017
Konular:
Case Report
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller