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Article

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9).

Journal of medical genetics - 1 Sept 2004

Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz C E, Meindl A, Kooy R F

Abstract excerpt

Mental retardation is the most frequent cause of serious handicap in children and young adults. The underlying causes of this heterogeneous condition are both acquired and genetically based. A recently performed refinement of the linkage interval in a large Belgian family with mild to severe non-syndromic X linked mental retardation, classified as MRX9, revealed a candidate region of 11.3 Mb between markers...

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Identifiers

PMID: 15342698
DOI: 10.1136/jmg.2004.019000
PMCID: PMC1735884

Genes

FTSJ1

Provenance

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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A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9).PMID 15342698Read ↗

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