The tale of two genes: from next-generation sequencing to phenotype

An 18-yr-old man with a history of intellectual disability, craniofacial dysmorphism, seizure disorder, and obesity was identified to carry a de novo, pathogenic variant in ASXL1 (c.4198G>T; p.E1400X) associated with the diagnosis of Bohring–Opitz syndrome based on exome sequencing. In addition,...

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Detalles Bibliográficos
Autores principales: Rohanizadegan, Mersedeh, Siddharath, Aishwarya, Retterer, Kyle, Hung, Christina, Bodamer, Olaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7133747/
https://www.ncbi.nlm.nih.gov/pubmed/31969346
http://dx.doi.org/10.1101/mcs.a004846

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7133747/
https://www.ncbi.nlm.nih.gov/pubmed/31969346
http://dx.doi.org/10.1101/mcs.a004846

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