Rare Variants in the Notch Signaling Pathway Describe a Novel Type of Autosomal Recessive Klippel–Feil Syndrome

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 f...

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Udgivet i:Am J Med Genet A
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4837953/
https://ncbi.nlm.nih.gov/pubmed/26238661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37263
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