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

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 Ibrahim Al Gazali

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)

Fingerprint

Dive into the research topics of 'Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology