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Last Updated: 10/31/2025
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Found 39 publications
Recurrent pathological fractures in chronic kidney disease revealing overlapping neglected primary hyperparathyroidism and GDF5-associated skeletal dysplasia.
Journal: Archives of osteoporosis
Published: May 09, 2025
Genetics, Clinical Presentation, Radiological Features, and Midterm Outcome of Closing Wedge Osteotomy in Children With Brachydactyly Type C.
Journal: Annals of plastic surgery
Published: May 03, 2022
BMP antagonists in tissue development and disease.
Journal: Matrix biology plus
Published: January 25, 2021
A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.
Journal: European journal of medical genetics
Published: September 15, 2020
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Journal: Bone
Published: August 27, 2020
Brachydactyly type C due to a nonsense mutation in the GDF5 gene
Journal: Anales de pediatria
Published: January 20, 2017
Uncommon bone abnormality: non-syndromic brachydactyly type C
Journal: The Pan African medical journal
Published: November 20, 2016
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
Journal: Journal of bone and mineral metabolism
Published: January 27, 2015
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?
Journal: Journal of human genetics
Published: December 09, 2014
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
Journal: American journal of medical genetics. Part A
Published: April 04, 2014
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.
Journal: Journal of molecular biology
Published: March 28, 2014
Last Updated: 10/31/2025