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Article

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.

BMC medical genetics - 10 Nov 2016

Dastan Jila, Chijiwa Chieko, Tang Flamingo, Martell Sally, Qiao Ying, Rajcan-Separovic Evica, Lewis M E Suzanne

Abstract excerpt

BACKGROUND: The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk. CASE PRESENTATION: In this study, we performed whole exome sequencing...

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Identifiers

PMID: 27832746
DOI: 10.1186/s12881-016-0340-0
PMCID: PMC5105257

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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