Lanean...

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing

BACKGROUND: 46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs. OBJECTIVE: T...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Clin Endocrinol Metab
Egile Nagusiak: Werner, Ralf, Merz, Hartmut, Birnbaum, Wiebke, Marshall, Louise, Schröder, Tatjana, Reiz, Benedikt, Kavran, Jennifer M., Bäumer, Tobias, Capetian, Philipp, Hiort, Olaf
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Endocrine Society 2015
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4490300/
https://ncbi.nlm.nih.gov/pubmed/25927242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-1314
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!