BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype-Reference-Cited by-同舟云学术

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

Published:2021-01-24 Issue:3 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Bednarek Marcin¹²^ORCID,Trybus Marek¹²^ORCID,Kolanowska Monika³^ORCID,Koziej Mateusz⁴^ORCID,Kiec‐Wilk Beata¹⁵^ORCID,Dobosz Artur⁶^ORCID,Kotlarek‐Łysakowska Marta³^ORCID,Kubiak‐Dydo Anna³^ORCID,Użarowska‐Gąska Ewelina³^ORCID,Staręga‐Rosłan Julia³^ORCID,Gaj Paweł³^ORCID,Górzyńska Izabela³,Serwan Katarzyna³,Świerniak Michał³^ORCID,Kot Adam³,Jażdżewski Krystian³⁷^ORCID,Wójcicka Anna³^ORCID

Affiliation:

1. 2nd Department of General Surgery Jagiellonian University Medical College Krakow Poland

2. University Hospital Krakow Poland

3. Warsaw Genomics INC. Warszawa Poland

4. Department of Anatomy Jagiellonian University Medical College Kraków Poland

5. Department of Metabolic Diseases Jagiellonian University Medical College Krakow Poland

6. Department of Medical Genetics Jagiellonian University Medical College Krakow Poland

7. Laboratory of Human Cancer Genetics University of Warsaw Warsaw Poland

Funder

Uniwersytet Jagielloński Collegium Medicum

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1594

Reference23 articles.

1. Missense Mutations of the BMPR1B (ALK6) Gene in Childhood Idiopathic Pulmonary Arterial Hypertension

2. Predicting the Functional Effect of Amino Acid Substitutions and Indels

3. Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays

4. GDF5 Is a Second Locus for Multiple-Synostosis Syndrome

5. Transforming Growth Factor β Receptor Signaling and Endocytosis Are Linked through a COOH Terminal Activation Motif in the Type I Receptor

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1. A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias;Bone;2023-10

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