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A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter–Thompson type

Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic dysplasia segregates in an autosomal recessive pattern and is caused by biallelic sequence variants in three genes (NPR2, GDF5, and BMPR...

詳細記述

保存先:
書誌詳細
出版年:Ann Hum Genet
主要な著者: Ullah, Asmat, Umair, Muhammad, Muhammad, Dost, Bilal, Muhammad, Lee, Kwanghyuk, Leal, Suzanne M, Ahmad, Wasim
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6141004/
https://ncbi.nlm.nih.gov/pubmed/29322508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ahg.12233
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