brachydactyly

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1
Svenja Alter, Andreas David Zimmer, Misun Park, Jianli Gong, Almuth Caliebe, Regina Fölster-Holst, Antonio Torrelo, Isabel Colmenero, Susan F Steinberg, Judith Fischer

Journal of Medical Genetics Jun 2021, 58 (6) 415-421; DOI: 10.1136/jmedgenet-2019-106564
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly
Rana Muhammad Kamran Shabbir, Gökhan Nalbant, Nafees Ahmad, Sajid Malik, Aslıhan Tolun

Journal of Medical Genetics Jul 2018, 55 (7) 489-496; DOI: 10.1136/jmedgenet-2017-105003

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brachydactyly