Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability-Reference-Cited by-同舟云学术

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Published:2022-10 Issue:4 Volume:3 Page:100132
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Duan Ruizhi,Hijazi Hadia,Gulec Elif Yilmaz,Eker Hatice Koçak,Costa Silvia R.,Sahin Yavuz,Ocak Zeynep,Isikay Sedat,Ozalp Ozge,Bozdogan Sevcan,Aslan Huseyin,Elcioglu Nursel,Bertola Débora R.,Gezdirici Alper,Du Haowei,Fatih Jawid M.,Grochowski Christopher M.,Akay Gulsen,Jhangiani Shalini N.,Karaca Ender,Gu Shen,Coban-Akdemir Zeynep,Posey Jennifer E.,Bayram Yavuz,Sutton V. Reid,Carvalho Claudia M.B.,Pehlivan Davut,Gibbs Richard A.,Lupski James R.

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

Reference99 articles.

1. Vertebrate limb bud development: moving towards integrative analysis of organogenesis;Zeller;Nat. Rev. Genet.,2009

2. Limb development: a paradigm of gene regulation;Petit;Nat. Rev. Genet.,2017

3. Pattern formation: old models out on a limb;Niswander;Nat. Rev. Genet.,2003

4. The incidence and epidemiology of congenital upper limb anomalies: a total population study;Giele;J. Hand Surg. Am.,2001

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