Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
PLCB3 纯合变异导致的磷酸肌醇信号传导缺陷，导致一种新型脊椎干骺端发育不良，并伴有角膜营养不良
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2017-104827
Salma Ben-Salem, Sarah M Robbins, Nara Lm Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali
信号转导
Developmental Biology
