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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Bibliografiska uppgifter
I publikationen:Cold Spring Harb Mol Case Stud
Huvudupphovsmän: Koboldt, Daniel C., Mihalic Mosher, Theresa, Kelly, Benjamin J., Sites, Emily, Bartholomew, Dennis, Hickey, Scott E., McBride, Kim, Wilson, Richard K., White, Peter
Materialtyp: Artigo
Språk:Inglês
Publicerad: Cold Spring Harbor Laboratory Press 2018
Ämnen:
Rapid Communication
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5983172/
https://ncbi.nlm.nih.gov/pubmed/29305346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002410
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