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

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, encephaloce...

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Detalles Bibliográficos
Autores principales: Silveira, Karina C., Fonseca, Inara Chacon, Oborn, Connor, Wengryn, Parker, Ghafoor, Saima, Beke, Alexander, Dreseris, Ema S., Wong, Cassandra, Iacovone, Aline, Soltys, Carrie-Lynn, Babul-Hirji, Riyana, Artigalas, Osvaldo, Antolini-Tavares, Arthur, Gingras, Anne-Claude, Campos, Eric, Cavalcanti, Denise P., Kannu, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602971/
https://www.ncbi.nlm.nih.gov/pubmed/37755482
http://dx.doi.org/10.1007/s00439-023-02598-2

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