Article
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
American journal of medical genetics. Part A - 1 Nov 2015
Karaca Ender, Yuregir Ozge O, Bozdogan Sevcan T, Aslan Huseyin, Pehlivan Davut, Jhangiani Shalini N, Akdemir Zeynep C, Gambin Tomasz, Bayram Yavuz, Atik Mehmed M, Erdin Serkan, Muzny Donna, Gibbs Richard A, Lupski James R
Abstract excerpt
Klippel-Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel-Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of...
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