Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?-Reference-Cited by-同舟云学术

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Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

Published:2020-04 Issue:4 Volume:63 Page:103812
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Smol Thomas,Ribero-Karrouz Wassila,Edery Patrick,Gorduza Daniela Brindusa,Catteau-Jonard Sophie,Manouvrier-Hanu Sylvie,Ghoumid Jamal

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference27 articles.

1. Nephric lineage specification by Pax2 and Pax8;Bouchard;Genes Dev.,2002

2. CKAP2L mutation confirms the diagnosis of Filippi syndrome;Capecchi;Clin. Genet.,2018

3. A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract;Carvalho;Thyroid,2013

4. Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women;Cheroki;Am. J. Med. Genet.,2006

5. Genomic imbalances associated with mullerian aplasia;Cheroki;J. Med. Genet.,2008

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications;Frontiers in Endocrinology;2024-04-18

2. Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility—A Systematic Review;International Journal of Molecular Sciences;2023-12-21

3. Phenotypic and genetic study of a child with deletion of chromosome 2q and obstructive sleep apnea syndrome and deafness;Asian Journal of Surgery;2023-07

4. A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8;CLIN PEDIATR ENDOCRI;2023

5. A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving <i>PAX8</i>;Clinical Pediatric Endocrinology;2023

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