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Article

Schimke XLID syndrome results from a deletion in BCAP31.

American journal of medical genetics. Part A - 1 Sept 2020

Louie Raymond J, Collins Debra L, Friez Michael J, Skinner Cindy, Schwartz Charles E, Stevenson Roger E

Abstract excerpt

A family with three affected males and a second family with a single affected male with intellectual disability, microcephaly, ophthalmoplegia, deafness, and Involuntary limb movements were reported by Schimke and Associates in 1984. The affected males with Schimke X-linked intellectual disability (XLID) syndrome (OMIM# 312840) had a similar facial appearance with deep-set eyes, downslanting palpebral fissures,...

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Source

Identifiers

PMID: 32681719
DOI: 10.1002/ajmg.a.61755

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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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Schimke XLID syndrome results from a deletion in BCAP31.PMID 32681719Read ↗

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