Open AccessDefect in phosphoinositide signalling through a homozygous variant inPLCB3causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Author(s) -
Salma Ben-Salem,
Sarah M. Robbins,
Nara Sobreira,
Angeline M. Lyon,
Aisha M. AlShamsi,
Barira Islam,
Nadia Akawi,
Anne John,
Thachillath Pramathan,
Sania Al Hamed,
David Valle,
Bassam R. Ali,
Lihadh AlGazali
Publication year - 2017
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2017-104827
Subject(s) - biology , disease gene identification , genetics , exome sequencing , lissencephaly , candidate gene , short stature , actin cytoskeleton , loss function , exome , dystrophy , gene , mutation , phenotype , cytoskeleton , endocrinology , cell
Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system.