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A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome

Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in individuals with 46,XY karyotype. PMDS is characterized by normal male phenotype of external genitals, associated with persistence of Müllerian structures....

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Détails bibliographiques
Publié dans:J Clin Res Pediatr Endocrinol
Auteurs principaux: Unal, Edip, Yıldırım, Ruken, Tekin, Suat, Demir, Vasfiye, Onay, Hüseyin, Haspolat, Yusuf Kenan
Format: Artigo
Langue:Inglês
Publié: Galenos Publishing 2018
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6280330/
https://ncbi.nlm.nih.gov/pubmed/29687786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.0013
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