46,XY DSD due to Isolated AMH Deficiency Resulting in Persistent Mullerian Duct Syndrome (PMDS) as a Consequence of a Single-Base Deletion in a SF1-Response Element of the AMH promoter

被引：0

作者：

Valeri, Clara ^{[1
]}

di Clemente, Nathalie ^{[2
,3
,4
]}

Marshall, Ian ^{[5
]}

Schteingart, Helena ^{[1
]}

Josso, Nathalie ^{[2
,3
,4
]}

Rey, Rodolfo ^{[1
,6
]}

Picard, Jean-Yves ^{[2
,3
,4
]}

机构：

[1] Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, Argentina

[2] Univ Paris Diderot, Sorbonne Paris Cite, F-75013 Paris, France

[3] INSERM, U1133, Physiol Axe Gonadotrope, F-75013 Paris, France

[4] CNRS, UMR8251, Biol Fonct & Adaptat, Paris, France

[5] Univ Med & Dent New Jersey, Child Hlth Inst New Jersey, Div Pediat Endocrinol, New Brunswick, NJ USA

[6] Univ Buenos Aires, Fac Med, Dept Histol Biol Celular Embriol & Genet, Buenos Aires, DF, Argentina

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2016年 / 86卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

LBP1

引用

页码：521 / 521

页数：1