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Article

Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3.

American journal of medical genetics. Part A - 15 Jan 2008

Gibson William T, Harvard Chansonette, Qiao Ying, Somerville Martin J, Lewis M E Suzanne, Rajcan-Separovic Evica

Abstract excerpt

An 8-year-old Caucasian girl presented with mild dysmorphic features and intellectual disability (ID) affecting multiple spheres. Dysmorphisms included a high forehead with up-slanting palpebral fissures, prominent nasal root and bridge, flattened maxilla, high-arched palate, and anterior frenulum. Structural brain anomalies included reduced periventricular white matter volume and thin corpus callosum. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 16

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Source

Identifiers

PMID: 18076105
DOI: 10.1002/ajmg.a.32056

Genes

ATR
SOX8

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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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