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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Dades bibliogràfiques
Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2019
Matèries:
Research Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6549549/
https://ncbi.nlm.nih.gov/pubmed/30622101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003608
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