Ontology highlight
ABSTRACT:
SUBMITTER: Genzer-Nir M
PROVIDER: S-EPMC2987341 | biostudies-literature | 2010 Jun
REPOSITORIES: biostudies-literature
Genzer-Nir Mira M Khayat Morad M Kogan Leonid L Cohen Hector I HI Hershkowitz Miriam M Geiger Dan D Falik-Zaccai Tzipora C TC
European journal of human genetics : EJHG 20100210 6
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, linkage studies followed by a genome-wide screen and by haplotype analysis defined the l ...[more]