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Article

Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1.

European journal of human genetics : EJHG - 1 Jun 2010

Genzer-Nir Mira, Khayat Morad, Kogan Leonid, Cohen Hector I, Hershkowitz Miriam, Geiger Dan, Falik-Zaccai Tzipora C

Abstract excerpt

Mammary-digital-nail syndrome is a novel phenotypic association consisting of anonychia onychodystrophy with hypoplasia or absence of distal phalanges in males and females, accompanied by juvenile hypertrophy of the breast in affected females. This newly described genetic trait presents an autosomal dominant inheritance pattern, with either reduced penetrance or germ-line mosaicism. Analysis of the pedigree,...

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Identifiers

PMID: 20145678
DOI: 10.1038/ejhg.2009.236
PMCID: PMC2987341

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