An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation-Reference-Cited by-同舟云学术

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An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

Published:2021-05-26 Issue:10 Volume:185 Page:2888-2894
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Zaka Ayesha¹,Shahzad Shaheen¹^ORCID,Rao Hadi Zahid²,Kanwal Sadia¹,Gul Asma¹^ORCID,Basit Sulman³^ORCID

Affiliation:

1. Genomics Research Lab, Department of Biological Sciences International Islamic University Islamabad Pakistan

2. Department of Oral and Maxillofacial Surgery Bahria University Medical and Dental College Karachi Pakistan

3. Department of Pathology, College of Medicine and Center for Genetics and Inherited Diseases Taibah University Medina Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62360

Reference36 articles.

1. A method and server for predicting damaging missense mutations

2. Incomplete penetrance and variable expressivity: is there a microRNA connection?

3. Ellis-Van Creveld Syndrome Associated with Thymic Hypoplasia

4. Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome

5. Whole exome sequencing analysis identifies a missense variant in COL1A2 gene which causes osteogenesis imperfecta Type IV in a family from Saudi Arabia

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