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

A duplication encompassing theSHOXgene and the downstream evolutionarily conserved sequences

(2009) Laura Roos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and molecular characterization of duplications encompassing the humanSHOXgene reveal a variable effect on stature

(2009) N. Simon Thomas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The developing female genital tract: from genetics to epigenetics

(2009) Julie Masse et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

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

Molecular analysis of the β-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome

(2008) Juliana B. Drummond et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study

(2008) Pascal Philibert et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions

(2008) Francesca R. Grati et al.   MOLECULAR AND CELLULAR PROBES