Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype-Reference-Cited by-同舟云学术

Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype

Published:2022-01-31 Issue:4 Volume:101 Page:421-428
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Turgut Gozde Tutku¹^ORCID,Altunoglu Umut¹²^ORCID,Sivrikoz Tugba Sarac³,Toksoy Guven¹,Kalaycı Tuğba¹,Avcı Şahin¹²,Karaman Birsen¹⁴,Gulec Cagri¹,Başaran Seher¹,Sayın Gözde Yeşil¹,Kayserili Hulya¹²^ORCID,Uyguner Zehra Oya¹^ORCID

Affiliation:

1. Department of Medical Genetics, Istanbul Medical Faculty Istanbul University Istanbul Turkey

2. Department of Medical Genetics Koç University School of Medicine (KUSoM) Istanbul Turkey

3. Perinatology Unit, Department of Obstetrics and Gynecology, Istanbul Medical Faculty Istanbul University Istanbul Turkey

4. Department of Pediatric Basic Sciences, Institute of Child Health Istanbul University Istanbul Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14117

Reference34 articles.

1. Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding

2. Deformations associated with arthrogryposis

3. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

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