A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome

Nalbantoglu, Ozlem; DEMİR, KORCAN; Korkmaz, Huseyin; Buyukinan, Muammer; Yildiz, Melek; Tunc, Selma; Ozkan, Behzat

doi:10.1515/jpem-2014-0501

A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome

Nalbantoglu O., DEMİR K., Korkmaz H. A., Buyukinan M., Yildiz M., Tunc S., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, sa.11-12, ss.1379-1382, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 28 Sayı: 11-12
Basım Tarihi: 2015
Doi Numarası: 10.1515/jpem-2014-0501
Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1379-1382
Anahtar Kelimeler: anti-Mullerian hormone, persistent Mullerian duct syndrome, 46,XY DSD
Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background: Persistent Mullerian duct syndrome (PMDS) is a rare form of male 46, XY disorder of sex development characterized by the presence of Mullerian duct derivatives in otherwise phenotypically normal males.