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Article

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.

European journal of human genetics : EJHG - 1 May 2018

Mei Cristina, Fedorenko Evelina, Amor David J, Boys Amber, Hoeflin Caitlyn, Carew Peter, Burgess Trent, Fisher Simon E, Morgan Angela T

Abstract excerpt

Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and...

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Identifiers

PMID: 29445122
DOI: 10.1038/s41431-018-0102-x
PMCID: PMC5945616

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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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