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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8104157/
https://ncbi.nlm.nih.gov/pubmed/33486847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1594
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