The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.

Chulaluck KuptanonChalurmpon SrichomthongApiruk SangsinDool KovitvanitchaKanya SuphapeetipornVorasuk Shotelersuk

Published in: BMC medical genetics (2018)

This report emphasizes the intrafamilial variability of brain anomalies found in this OI type and suggests that WNT1 may not be necessary for normal human cognitive development.

Keyphrases

resting state
white matter
cell proliferation
stem cells
endothelial cells
functional connectivity
cerebral ischemia
induced pluripotent stem cells
multiple sclerosis
autism spectrum disorder
brain injury
subarachnoid hemorrhage