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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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Bibliografiska uppgifter
I publikationen:J Clin Res Pediatr Endocrinol
Huvudupphovsmän: Unal, Edip, Yıldırım, Ruken, Tekin, Suat, Demir, Vasfiye, Onay, Hüseyin, Haspolat, Yusuf Kenan
Materialtyp: Artigo
Språk:Inglês
Publicerad: Galenos Publishing 2018
Ämnen:
Länkar: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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