17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum-Reference-Cited by-同舟云学术

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17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum

Published:2012-08-06 Issue:9 Volume:158A Page:2317-2321
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dixit Abhijit,Patel Chirag,Harrison Rachel,Jarvis Joanna,Hulton Sally,Smith Nigel,Yates Katherine,Silcock Lee,McMullan Dominic J.,Suri Mohnish

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35520/fullpdf

Reference16 articles.

1. Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta);Beckers;J Pediatr,2007

2. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5;Bellanne-Chantelot;Diabetes,2005

3. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: Two case reports;Bernardini;Orphanet J Rare Dis,2009

4. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5;Chen;Chin Med J (Engl),2010

5. Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta;Coffinier;Development,2002

Cited by 24 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. Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion;Taiwanese Journal of Obstetrics and Gynecology;2024-01

2. Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies;Experimental Biology and Medicine;2023-05

3. Review of neurodevelopmental disorders in patients with HNF1B gene variations;Frontiers in Pediatrics;2023-03-09

4. A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation;American Journal of Medical Genetics Part A;2022-12-22

5. Pregnancy outcome with maternal HNF1B gene mutations and 17q12 deletions;Obstetric Medicine;2022-06-27

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