Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey-Reference-Cited by-同舟云学术

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Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey

Published:2020-07-20 Issue:1 Volume:85 Page:27-36
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Gumus Evren¹²^ORCID,Tuncez Ebru³,Oz Ozlem¹,Saka Guvenc Merve⁴

Affiliation:

1. Department of Medical Genetics, Faculty of Medicine University of Harran Sanliurfa Turkey

2. Department of Medical Genetics, Faculty of Medicine University of Mugla Sitki Kocman Mugla Turkey

3. Clinic of Medical Genetics Sanliurfa Training and Research Hospital Sanliurfa Turkey

4. Genetic Diagnosis Center, Tepecik Training and Research Hospital University of Health Sciences Izmir Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12401

Reference50 articles.

1. Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

2. Predicting functional effect of human missense mutations using PolyPhen‐2;Adzhubei I.;Current Protocols in Human Genetics,2013

3. A global reference for human genetic variation

4. A case series of Bardet-Biedl Syndrome in a large Turkish family and review of the literature

5. The 3rd W522X mutation in EIF2AK3 gene from Turkey: A new patient with Wolcott‐Rallison syndrome;Bahsi T.;Genetic Counseling,2016

Cited by 3 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. Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome;European Journal of Ophthalmology;2022-11-03

2. Response to Letter to the Editor: “Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet–Biedl syndrome”;Annals of Human Genetics;2021-04-05

3. Atrioventricular canal defect is the classic congenital heart disease in Bardet–Biedl syndrome;Annals of Human Genetics;2021-01-12

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