A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR) form of...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Hu, Ying, Chen, I-Ping, de Almeida, Salome, Tiziani, Valdenize, Do Amaral, Cassio M. Raposo, Gowrishankar, Kalpana, Passos-Bueno, Maria Rita, Reichenberger, Ernst J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2013
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3741164/
https://ncbi.nlm.nih.gov/pubmed/23951358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0073576
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak