,
The ESHRE-ESGE consensus on the classification of female genital tract congenital anomalies, Gynecol Surg, vol.10, issue.3, pp.199-212, 2013. ,
Etiologies of uterine malformations, Am J Med Genet A, vol.170, issue.8, pp.2141-2172, 2016. ,
Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies, Cell Res, 2019. ,
Array-comparative genomic hybridization analysis in patients with Müllerian fusion anomalies, Clin Genet, vol.93, issue.3, pp.640-646, 2018. ,
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia, J Med Genet, vol.48, issue.3, pp.197-204, 2011. ,
LHX1 and copy number variations in the complex genetics of Müllerian aplasia, Orphanet J Rare Dis, vol.8, p.125, 2013. ,
Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts, Fertil Steril, vol.103, issue.5, pp.1313-1318, 2015. ,
Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature, Am J Med Genet A, vol.164, issue.9, pp.2276-2286, 2014. ,
Hereditary urogenital adysplasia, Clin Genet, vol.18, issue.6, p.417, 1980. ,
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice, Am J Hum Genet, vol.101, issue.5, pp.803-814, 2017. ,
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report, Am J Hum Genet, vol.101, issue.6, p.1034, 2017. ,
, Gene Implicated in Activation
, Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans, Genetics, vol.207, issue.1, pp.215-228, 2017.
The mutational constraint spectrum quantified from variation in 141,456 humans. bioRxiv, p.531210, 2020. ,
CADD: predicting the deleteriousness of variants throughout the human genome, Nucleic Acids Res, vol.47, issue.D1, p.6, 2017. ,
,
, High Fraction of the Human Genome to be under Selective Constraint Using GERP++