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Article

The 2p21 deletion syndrome: characterization of the transcription content.

Genomics - 1 Aug 2005

Parvari Ruti, Gonen Yael, Alshafee Ismael, Buriakovsky Sophia, Regev Kfir, Hershkovitz Eli

Abstract excerpt

The vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria, neonatal seizures, hypotonia, severe somatic and developmental delay, facial dysmorphism, and...

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Identifiers

PMID: 15913950
DOI: 10.1016/j.ygeno.2005.04.001

Genes

PREPL

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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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