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Article

Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene.

American journal of medical genetics. Part A - 1 Aug 2017

Li Lin, Huang Linhuan, Lin Shaobin, Luo Yanmin, Fang Qun

Abstract excerpt

A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left...

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Source

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PMID: 28544142
DOI: 10.1002/ajmg.a.38284

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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