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Article

[De novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). Report of a new case].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jan 2004

Carbonell Pérez J M, Galán Gómez E, Sáenz Hurtado J, Rodríguez Martínez L, Cardesa García J J, Martínez Frías M L

Abstract excerpt

We report a case of de novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). The patient showed dysmorphic features (flat face, short and horizontal palpebral fissures, depressed and broad nasal bridge, wide nose with hypoplastic alae nasae, short and flat...

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Share to Chromosomes, Human, Pair 5
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Identifiers

PMID: 14718135
DOI: 10.1016/s1695-4033(04)78220-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14718135-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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[De novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). Report of a new case].PMID 14718135Read ↗

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