Publications:

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

Orthopaedic Surgery

Li, Qiuya Q; Bai, Fan F; Chen, Shanlin S

Publication Date: 2022-09

Variant appearance in text: GDF5: 803_827del

PubMed Link: 35819086

Variant Present in the following documents:

• Main text
• OS-14-2386.pdf

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Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family.

Molecular Syndromology

Uyguner, Z O ZO; Kocaoğlu, M M; Toksoy, G G; Basaran, S S; Kayserili, H H

Publication Date: 2014-02

Variant appearance in text: GDF5: 803_827del

PubMed Link: 24715855

Variant Present in the following documents:

• Main text

View BVdb publication page