Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition

A 55-yr-old male with severe intellectual disability, behavioral problems, kyphoscoliosis, and dysmorphic features was referred for a genetic evaluation. Chromosomal microarray, RASopathy gene panel, mitochondrial sequencing, and fragile X testing were all negative. Subsequent whole-exome sequencing...

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Detalles Bibliográficos
Autores principales: Murdock, David R., Jiang, Yunyun, Wangler, Michael, Khayat, Michael M., Sabo, Aniko, Juusola, Jane, McWalter, Kirsty, Schatz, Krista Sondergaard, Gunay-Aygun, Meral, Gibbs, Richard A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549549/
https://www.ncbi.nlm.nih.gov/pubmed/30622101
http://dx.doi.org/10.1101/mcs.a003608

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549549/
https://www.ncbi.nlm.nih.gov/pubmed/30622101
http://dx.doi.org/10.1101/mcs.a003608

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