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Article

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

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

Weissbach Susann, Reinert Marie-Christine, Altmüller Janine, Krätzner Ralph, Thiele Holger, Rosenbaum Thorsten, Nürnberg Peter, Gärtner Jutta

Abstract excerpt

Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by intellectual disability, short stature, hypogonadism, and gait abnormalities. It is caused by a wide spectrum of hemizygous variants in CUL4B. In a 10-year-old boy with an exceptional leukoencephalopathy pattern, we identified a new missense variant...

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PMID: 28817236
DOI: 10.1002/ajmg.a.38390

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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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