A splice site variant in <i>TCTN3</i> underlies an atypical form of orofaciodigital syndrome IV-Reference-Cited by-同舟云学术

A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV

Published:2022-08-30 Issue:6 Volume:86 Page:291-296
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Hussain Shabir¹,Nawaz Shoaib²,Khan Hammal¹³,Acharya Anushree⁴,Schrauwen Isabelle⁴,Ahmad Wasim¹,Leal Suzanne M.⁴⁵

Affiliation:

1. Department of Biochemistry, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Pakistan

2. Department of Biotechnology, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Pakistan

3. Department of Biosciences COMSATS University Islamabad Pakistan

4. Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology Columbia University Medical Center New York New York USA

5. Taub Institute for Alzheimer's Disease and the Aging Brain Columbia University Medical Center New York New York USA

Funder

Higher Education Commision, Pakistan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12462

Reference35 articles.

1. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

2. Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

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