Two novel homozygous missense mutations in theGDF5gene cause brachydactyly type C-Reference-Cited by-同舟云学术

Two novel homozygous missense mutations in theGDF5gene cause brachydactyly type C

Published:2015-03-28 Issue:7 Volume:167 Page:1621-1626
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Al-Qattan Mohammad M.¹,Al-Motairi Muhammed I.¹,Al Balwi Mohammed A.²³⁴

Affiliation:

1. Department of Surgery; King Saud University; Riyadh Saudi Arabia

2. Department of Pathology and Laboratory Medicine; King Abdulaziz Medical City; Riyadh Saudi Arabia

3. King Abdullah International Medical Research Center; Molecular Biology; King Abdulaziz Medical City; Riyadh Saudi Arabia

4. King Saud Bin Abdulaziz University for Health Sciences; College of Medicine; Riyadh Saudi Arabia

Funder

College of Medicine Research Center, Deanship of Scientific Research, King Saud University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37040/fullpdf

Reference27 articles.

1. Embryology of familial (non-syndromic) brachydactyly of the hand;Al-Qattan;J Hand Surg Eur,2014

2. Identification de una nueva mutacion en el gen CDMP1 causante de la braquidactilia tipo C en una familia Colombiana;Arguello;Acta Biologica Colombiana,2001

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. Mutations in GDF5 presenting as semidominant brachydactyly A1;Byrnes;Hum Mutat,2010

5. Angel-shaped phalanges in brachydactyly C: A case report and speculation on pathogenesis;Castriota-Scanderberg;Pediatr Radiol,2005

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2. A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review;European Journal of Medical Genetics;2021-07

3. GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations;Bone;2021-03

4. Genetic regulation of linear growth;Annals of Pediatric Endocrinology & Metabolism;2019-03-31

5. Braquidactilia tipo C debida a mutación de parada en el gen GDF5;Anales de Pediatría;2018-02