A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review-Reference-Cited by-同舟云学术

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review

Published:2021-07 Issue:7 Volume:64 Page:104226
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Faryal Sanam,Farooq Muhammad,Abdullah Uzma^ORCID,Ali Zafar,Saadi Saadia Maryam^ORCID,Ullah Farid^ORCID,Khan Kamal,Sarwar Yasra,Sher Muhammad,Chopra Anuja Arora,Tommerup Niels,Baig Shahid M.

Funder

Higher Education Commission, Pakistan

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference21 articles.

1. Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C;Al‐Qattan;Am. J. Med. Genet.,2015

2. Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family;Al‐Yahyaee;Am. J. Med. Genet.,2003

3. A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family;Basit;BMC Med. Genet.,2008

4. Frameshift mutation in the cartilage‐derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe‐type chondrodysplasia;Faiyaz‐Ul‐Haque;Am. J. Med. Genet.,2002

5. Mutation in the cartilage‐derived morphogenetic protein‐1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome);Faiyaz‐Ul‐Haque;Clin. Genet.,2002

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1. A missense GDF5 variant causes brachydactyly type A1 and multiple‐synostoses syndrome 2;JOR SPINE;2023-11-28

2. A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias;Bone;2023-10

3. Chondrodysplasia, Grebe Type;Genetic Syndromes;2023

4. A novel variant in the ROR2 gene underlying brachydactyly type B: a case report;BMC Pediatrics;2022-09-05

5. Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip;Genes;2021-06-28