De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

BACKGROUND: Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical investigation. The recent advent and use of genomic med...

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Detalles Bibliográficos
Autores principales: Dinwiddie, Darrell L, Soden, Sarah E, Saunders, Carol J, Miller, Neil A, Farrow, Emily G, Smith, Laurie D, Kingsmore, Stephen F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851682/
https://www.ncbi.nlm.nih.gov/pubmed/24044690
http://dx.doi.org/10.1186/1755-8794-6-32

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851682/
https://www.ncbi.nlm.nih.gov/pubmed/24044690
http://dx.doi.org/10.1186/1755-8794-6-32

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