J Androl. 2008 Sep-Oct;29(5):506-13. doi: 10.2164/jandrol.108.005074. Epub 2008 Jun 20.
PMID:18567645
The Mayer-Rokitansky-Kuster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches.
Guerrier D, Mouchel T, Pasquier L, Pellerin I.
J Negat Results Biomed. 2006 Jan 27;5:1. doi: 10.1186/1477-5751-5-1.
PMID:16441882
Endocrine disorders and fertility and pregnancy: An update.
Bendarska-Czerwińska A, Zmarzły N, Morawiec E, Panfil A, Bryś K, Czarniecka J, Ostenda A, Dziobek K, Sagan D, Boroń D, Michalski P, Pallazo-Michalska V, Grabarek BO.
Front Endocrinol (Lausanne). 2023 Jan 17;13:970439. doi: 10.3389/fendo.2022.970439. eCollection 2022.
PMID:36733805
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.
Herlin MK.
Front Endocrinol (Lausanne). 2024 Apr 18;15:1368990. doi: 10.3389/fendo.2024.1368990. eCollection 2024.
PMID:38699388
Secondary Amenorrhea.
Lord M, Jenkins SM, Sahni M.
2024 Oct 28. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:28613709
CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family.
Ghouchanatigh MD, Khan R, Mojarrad M, Hameed U, Zubair M, Waqas A, Jalali M, Kalantari M, Shamsa A, Zhang H, Shi QH.
Asian J Androl. 2022 Jul-Aug;24(4):416-421. doi: 10.4103/aja202177.
PMID:34755701
HOXA10 mutations in congenital absence of uterus and vagina.
Lalwani S, Wu HH, Reindollar RH, Gray MR.
Fertil Steril. 2008 Feb;89(2):325-30. doi: 10.1016/j.fertnstert.2007.03.033. Epub 2007 May 7.
PMID:17482600
PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.
Yang Q, Hua R, Qian J, Yi S, Shen F, Zhang Q, Li M, Yi S, Luo J, Fan X.
Front Genet. 2020 Mar 11;11:198. doi: 10.3389/fgene.2020.00198. eCollection 2020.