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

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 brach...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104157/
https://www.ncbi.nlm.nih.gov/pubmed/33486847
http://dx.doi.org/10.1002/mgg3.1594

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