Last Updated: 09/26/2026
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Found 8 publications
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Journal: Molecular genetics and metabolism
Published: July 09, 2023
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Journal: Human mutation
Published: December 23, 2020
Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways.
Journal: Developmental dynamics : an official publication of the American Association of Anatomists
Published: December 05, 2020
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Journal: Journal of human genetics
Published: July 24, 2017
EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.
Journal: Birth defects research. Part A, Clinical and molecular teratology
Published: March 06, 2015
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Journal: European journal of human genetics : EJHG
Published: February 17, 2015
Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
Journal: PLoS genetics
Published: May 09, 2014
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
Journal: Clinical genetics
Published: February 08, 2014
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Last Updated: 09/26/2026