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Article

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.

American journal of human genetics - 1 Feb 2007

Lenski Claus, Kooy R Frank, Reyniers Edwin, Loessner Daniela, Wanders Ronald J A, Winnepenninckx Birgitta, Hellebrand Heide, Engert Stefanie, Schwartz Charles E, Meindl Alfons, Ramser Juliane

Abstract excerpt

Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS10). Linkage analysis in this family revealed a candidate region of 13.4 Mb between markers DXS1201 and DXS991 on Xp11; therefore, mutation analysis was performed by direct sequencing in most of the...

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PMID: 17236142
DOI: 10.1086/511527
PMCID: PMC1785340

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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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