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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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| Udgivet i: | J Med Genet |
|---|---|
| Main Authors: | , , , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2017
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| Fag: | |
| Online adgang: | 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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