A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome

Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy and have no other children. Oligo array, fragile X testing, and n...

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Detalles Bibliográficos
Autores principales: Koboldt, Daniel C., Mihalic Mosher, Theresa, Kelly, Benjamin J., Sites, Emily, Bartholomew, Dennis, Hickey, Scott E., McBride, Kim, Wilson, Richard K., White, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983172/
https://www.ncbi.nlm.nih.gov/pubmed/29305346
http://dx.doi.org/10.1101/mcs.a002410

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983172/
https://www.ncbi.nlm.nih.gov/pubmed/29305346
http://dx.doi.org/10.1101/mcs.a002410

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