BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

Abstract 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...

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Bibliographic Details
Main Authors: Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
BMPR1B
brachydactyly
human genetics
mutation
Online Access:https://doi.org/10.1002/mgg3.1594

Internet

https://doi.org/10.1002/mgg3.1594

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