Ontology highlight
ABSTRACT:
INSTRUMENT(S): TripleTOF 6600
ORGANISM(S): Homo Sapiens (ncbitaxon:9606)
SUBMITTER: Anne-Claude Gingras
PROVIDER: MSV000091800 | MassIVE | Wed Apr 26 09:17:00 BST 2023
SECONDARY ACCESSION(S): PXD041830
REPOSITORIES: MassIVE
Human genetics 20230927 11
CYP26B1 metabolizes retinoic acid in the developing embryo to regulate its levels. A limited number of individuals with pathogenic variants in CYP26B1 have been documented with a varied phenotypic spectrum, spanning from a severe manifestation involving skull anomalies, craniosynostosis, encephalocele, radio-humeral fusion, oligodactyly, and a narrow thorax, to a milder presentation characterized by craniosynostosis, restricted radio-humeral joint mobility, hearing loss, and intellectual disabil ...[more]