Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

BACKGROUND: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system. METHODS: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati firs...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Ben-Salem, Salma, Robbins, Sarah M, Sobreira, Nara LM, Lyon, Angeline, Al-Shamsi, Aisha M, Islam, Barira K, Akawi, Nadia A, John, Anne, Thachillath, Pramathan, Hamed, Sania Al, Valle, David, Ali, Bassam R, Al-Gazali, Lihadh
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8215682/
https://ncbi.nlm.nih.gov/pubmed/29122926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-104827
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