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CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence

27 Sept 2023

Abstract excerpt

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...

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PMID: 37755482
DOI: 10.1007/s00439-023-02598-2

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