Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

doi:10.1016/j.ajhg.2016.01.011

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Article

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

American journal of human genetics - 3 Mar 2016

Harel Tamar, Yesil Gozde, Bayram Yavuz, Coban-Akdemir Zeynep, Charng Wu-Lin, Karaca Ender, Al Asmari Ali, Eldomery Mohammad K, Hunter Jill V, Jhangiani Shalini N, Rosenfeld Jill A, Pehlivan Davut, El-Hattab Ayman W, Saleh Mohammed A, LeDuc Charles A, Muzny Donna, Boerwinkle Eric, Gibbs Richard A, Chung Wendy K, Yang Yaping, Belmont John W, Lupski James R

Abstract excerpt

The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from nonsense-mediated decay. Using whole-exome sequencing, we identified homozygous variants in EMC1 that segregated with a...

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Identifiers

PMID: 26942288
DOI: 10.1016/j.ajhg.2016.01.011
PMCID: PMC4800043

Genes

EMC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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