Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
39386107 (PubMed )
Supplement: mmc2.xlsx › standard
Nonsense mutation of EMX2 is potential causative for uterus didelphysis: first molecular explanation for isolated incomplete müllerian fusion.
Liu S et al.
Fertility and Sterility, 2015
Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han.
Ma W et al.
Plos One, 2015
A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome.
Matsushita M et al.
Pediatric Radiology, 2014
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
Variants of the WNT7A gene in Chinese patients with müllerian duct abnormalities.
Dang Y et al.
Fertility and Sterility, 2012
Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome.
Ravel C et al.
Fertility and Sterility, 2009
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