Brachydactyly Type C Latest Advances

Find the Latest Research About Brachydactyly Type C

Last Updated: 09/26/2026

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Found 41 publications

Recombinant growth hormone therapy in a patient with brachydactyly: case report with literature review.

Recombinant growth hormone therapy in a patient with brachydactyly: case report with literature review.

Journal: Pediatric endocrinology, diabetes, and metabolism

Published: September 07, 2026

Hybrid spiradenoma and cylindroma in a patient with brachydactyly type C: A potential genodermatosis overlap.

Hybrid spiradenoma and cylindroma in a patient with brachydactyly type C: A potential genodermatosis overlap.

Journal: Dermatology online journal

Published: November 08, 2025

Recurrent pathological fractures in chronic kidney disease revealing overlapping neglected primary hyperparathyroidism and GDF5-associated skeletal dysplasia.

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.

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

Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report.

Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report.

Journal: Orthopaedic surgery

Published: August 29, 2021

BMP antagonists in tissue development and disease.

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.

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.

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

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

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.

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?

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

Showing 1-12 of 41

Last Updated: 09/26/2026