Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome-Reference-Cited by-同舟云学术

Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome

Published:2018-09-27 Issue:1 Volume:5 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Takahashi Kazumi,Hayano Takahide,Sugimoto Ryota,Kashiwagi Hirofumi,Shinoda Mari,Nishijima Yoshihiro,Suzuki Takahiro,Suzuki Shingo,Ohnuki Yuko,Kondo Akane,Shiina Takashi,Nakaoka Hirofumi,Inoue Ituro,Izumi Shun-ichiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-018-0028-4.pdf

Reference20 articles.

1. Ledig, S. & Wieacker, P. Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. Med. Genet. 30, 3–11 (2018).

2. Herlin, M., Højland, A. T. & Petersen, M. B. Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature. Am. J. Med. Genet. A. 164A, 2276–2286 (2014).

3. Bernardini, L. et al. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J. Rare Dis. 4, 25 (2009).

4. Ledig, S. et al. Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil. Steril. 95, 1589–1594 (2011).

5. Demir Eksi, D. et al. Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia. Mol. Cytogenet. 11, 13 (2018).

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