Article
BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
Molecular genetics & genomic medicine - 1 Mar 2021
Bednarek Marcin, Trybus Marek, Kolanowska Monika, Koziej Mateusz, Kiec-Wilk Beata, Dobosz Artur, Kotlarek-Łysakowska Marta, Kubiak-Dydo Anna, Użarowska-Gąska Ewelina, Staręga-Rosłan Julia, Gaj Paweł, Górzyńska Izabela, Serwan Katarzyna, Świerniak Michał, Kot Adam, Jażdżewski Krystian, Wójcicka Anna
Abstract excerpt
BACKGROUND: Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients' phenotypes, brachydactylies have been subdivided into 10 subtypes. In this study, we have identified a family with two members affected by brachydactyly type A2 (BDA2). BDA2 is caused by mutations in three genes: BMPR1B, BMP2 or GDF5. So far only two studies...
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