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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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Dades bibliogràfiques
Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: Rohanizadegan, Mersedeh, Siddharath, Aishwarya, Retterer, Kyle, Hung, Christina, Bodamer, Olaf
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7133747/
https://ncbi.nlm.nih.gov/pubmed/31969346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004846
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