Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

BACKGROUND: Pathogenic heterozygous SIX1 variants (predominantly missense) occur in branchio-otic syndrome (BOS), but an association with craniosynostosis has not been reported. METHODS: We investigated probands with craniosynostosis of unknown cause using whole exome/genome (n=628) or RNA (n=386) s...

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Detalles Bibliográficos
Autores principales: Calpena, Eduardo, Wurmser, Maud, McGowan, Simon J, Atique, Rodrigo, Bertola, Débora R, Cunningham, Michael L, Gustafson, Jonas A, Johnson, David, Morton, Jenny E V, Passos-Bueno, Maria Rita, Timberlake, Andrew T, Lifton, Richard P, Wall, Steven A, Twigg, Stephen R F, Maire, Pascal, Wilkie, Andrew O M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273188/
https://www.ncbi.nlm.nih.gov/pubmed/33436522
http://dx.doi.org/10.1136/jmedgenet-2020-107459

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273188/
https://www.ncbi.nlm.nih.gov/pubmed/33436522
http://dx.doi.org/10.1136/jmedgenet-2020-107459

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