Article
Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.
Genes - 20 Dec 2024
Reis Linda M, Basel Donald, Bitoun Pierre, Walton David S, Glaser Tom, Semina Elena V
Abstract excerpt
Background: Disruption of HCCS results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small...
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