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Article

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

European journal of human genetics : EJHG - 1 Oct 2007

Martens Kevin, Heulens Inge, Meulemans Sandra, Zaffanello Marco, Tilstra David, Hes Frederik J, Rooman Raoul, François Inge, de Zegher Francis, Jaeken Jaak, Matthijs Gert, Creemers John W M

Abstract excerpt

Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I. While the initially described HCS families live in small regions in Belgium and France, we have now identified HCS alleles in patients and carriers from the Netherlands, Italy,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17579669
DOI: 10.1038/sj.ejhg.5201881

Genes

PREPL

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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