Last Updated: 09/26/2026
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Found 5 publications
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Journal: Science advances
Published: March 10, 2023
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Journal: HGG advances
Published: July 13, 2021
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
Journal: American journal of medical genetics. Part A
Published: December 05, 2019
Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.
Journal: Clinical genetics
Published: September 06, 2016
POGZ truncating alleles cause syndromic intellectual disability.
Journal: Genome medicine
Published: August 04, 2015
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Last Updated: 09/26/2026