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Article

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene.

Molecular genetics and metabolism - 1 Feb 2011

Battini R, Chilosi A M, Casarano M, Moro F, Comparini A, Alessandrì M G, Leuzzi V, Tosetti M, Cioni G

Abstract excerpt

We describe the clinical and molecular features of a child harboring a novel mutation in SLC6A8 gene in association with a milder phenotype than other creatine transporter (CT1) deficient patients (OMIM 300352) [1-7]. The mutation c.757 G>C p.G253R in exon 4 of SLC6A8 was hemizygous in the child,...

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Identifiers

PMID: 21144783
DOI: 10.1016/j.ymgme.2010.11.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21144783-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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