Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spo...
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
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England: BMJ Publishing Group LTD
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English
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England: BMJ Publishing Group LTD
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BackgroundBone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system.MethodsIn the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency c...
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Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8215682
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8215682
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2017-104827
