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Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2023

Moeinafshar Aysan, Tehrani Fateh Sahand, Sadeghi Hossein, Karimzadeh Parvaneh, Mirfakhraie Reza, Hashemi-Gorji Farzad, Larki Pegah, Miryounesi Mohammad, Ghasemi Mohammad-Reza

Abstract excerpt

Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare autosomal dominant genetic disorder caused by genetic alterations in the CTNNB1 gene. CTNNB1 is a gene that encodes β-catenin, an effector protein in the canonical Wnt pathway involved in stem cell differentiation and proliferation, synaptogenesis, and a wide range of essential cellular mechanisms. Mutations in this gene are...

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PMID: 37369877
DOI: 10.1007/s10072-023-06922-6

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CTNNB1

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