Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome)

(2011) Pascal Philibert et al.   FERTILITY AND STERILITY

High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia

(2011) S. Nik-Zainal et al.   JOURNAL OF MEDICAL GENETICS

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

(2011) Karine Morcel et al.   Orphanet Journal of Rare Diseases

Evaluation of SHOX copy number variations in patients with Müllerian aplasia

(2011) Maria Sandbacka et al.   Orphanet Journal of Rare Diseases

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

(2010) Susanne Ledig et al.   FERTILITY AND STERILITY

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

(2010) Cristina Gervasini et al.   GENETICS IN MEDICINE

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

(2010) Chantal Loirat et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

(2009) Laura Bernardini et al.   Orphanet Journal of Rare Diseases

MouseDach1 andDach2 are redundantly required for Müllerian duct development

(2008) Richard J. Davis et al.   GENESIS