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Article

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

Gene - 15 Oct 2013

Melo Cláudia, Gama-de-Sousa Susana, Almeida Filipa, Rendeiro Paula, Tavares Purificação, Cardoso Helena, Carvalho Sónia

Abstract excerpt

Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short st...

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Identifiers

PMID: 23928108
DOI: 10.1016/j.gene.2013.07.031

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23928108-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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