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Article

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.

American journal of medical genetics. Part A - 1 Dec 2010

Martínez-Glez Víctor, Romanelli Valeria, Mori María A, Gracia Ricardo, Segovia Mabel, González-Meneses Antonio, López-Gutierrez Juan C, Gean Esther, Martorell Loreto, Lapunzina Pablo

Abstract excerpt

Macrocephaly-capillary malformation (M-CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation. We describe the clinical features of 13 cases, report on the genome-wide Copy Number Variation characterization of the...

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Identifiers

PMID: 21077203
DOI: 10.1002/ajmg.a.33514

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21077203-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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