A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods-Reference-Cited by-同舟云学术

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A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods

Published:2021-09-27 Issue:1 Volume:188 Page:343-349
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Malik Sajid¹^ORCID,Nalbant Gökhan²^ORCID,Noreen Moqadsa¹,Afzal Muhammad¹,Tolun Aslıhan³^ORCID

Affiliation:

1. Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Pakistan

2. Department of Biostatistics and Bioinformatics Institute of Health Sciences, Acıbadem Mehmet Ali Aydinlar University

3. Department of Molecular Biology and Genetics, MOBGAM Istanbul Technical University Istanbul Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62514

Reference22 articles.

1. Revisiting the morbid genome of Mendelian disorders

2. Extremity anomalies associated with Robinow syndrome

3. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

4. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novelROR2gene mutations

5. Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

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1. Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan;Prosthetics & Orthotics International;2023-01-31

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