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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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| Publicat a: | Cold Spring Harb Mol Case Stud |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Cold Spring Harbor Laboratory Press
2018
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| Matèries: | |
| Accés en línia: | 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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