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Article

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.

American journal of medical genetics. Part A - 1 Aug 2013

Bartholdi Deborah, Asadollahi Reza, Oneda Beatrice, Schmitt-Mechelke Thomas, Tonella Paolo, Baumer Alessandra, Rauch Anita

Abstract excerpt

Homozygous contiguous gene deletion syndromes are rare. On 2p21, however, several overlapping homozygous gene deletion syndromes have been described, all presenting with cystinuria but otherwise distinct phenotypes. Hypotonia-cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. Affected individuals carry homozygous deletions including the...

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Identifiers

PMID: 23794250
DOI: 10.1002/ajmg.a.35994

Genes

PREPL
CAMKMT

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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