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Article

Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).

Psychiatric genetics - 1 Jan 1995

Bolton P, Powell J, Rutter M, Buckle V, Yates J R, Ishikawa-Brush Y, Monaco A P

Abstract excerpt

A young adult female with multiple exostoses, short stature, autism, mental retardation and 46,X,t(X;8)(p22.13;q22.1) is described. Although the clinical features and translocation breakpoints raise the possibility of a number of specific conditions, the constellation of problems is not consistent with any previously reported genetic syndrome. It is argued that her clinical disorder is likely due to the...

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Source

Identifiers

PMID: 7551962
DOI: 10.1097/00041444-199522000-00001

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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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