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Article

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

Cold Spring Harbor molecular case studies - 1 Apr 2020

Rohanizadegan Mersedeh, Siddharath Aishwarya, Retterer Kyle, Hung Christina, Bodamer Olaf

Abstract excerpt

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, he was identified to carry a maternally inherited and likely pathogenic variant in MC4R (c.817C>T; p.Q273X) associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31969346
DOI: 10.1101/mcs.a004846
PMCID: PMC7133747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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