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Renal abnormalities associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Dorosiev E, Muzikadzhieva G, Mladenov B, Stoev I, Velev D. Dorosiev E, et al. Folia Med (Plovdiv). 2021 Oct 31;63(5):815-818. doi: 10.3897/folmed.63.e63325. Folia Med (Plovdiv). 2021. PMID: 35851218
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone (type 1), or associated with abnormalities of other organs and systems (type 2). ...
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of …
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.
Reynaert N, de Zegher F, Francois I, Devriendt K, Beckers D, Casteels K. Reynaert N, et al. Horm Res Paediatr. 2016;85(4):288-90. doi: 10.1159/000443308. Epub 2016 Jan 8. Horm Res Paediatr. 2016. PMID: 26741373
METHODS AND RESULTS: We describe the case of a girl with a novel heterozygous deletion in exon 15 of the CHD7 gene and combined agenesis of uterus and ovaries, besides gonadotropin deficiency, thus expanding the geno-phenotype of CHARGE syndrome. ...
METHODS AND RESULTS: We describe the case of a girl with a novel heterozygous deletion in exon 15 of the CHD7 gene and combined agenesis …