Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome
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{%raw%}@article{karaca2015rare,
title ={Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel--Feil syndrome},
author ={Karaca, Ender and Yuregir, Ozge O and Bozdogan, Sevcan T and Aslan, Huseyin and Pehlivan, Davut and Jhangiani, Shalini N and Akdemir, Zeynep C and Gambin, Tomasz and Bayram, Yavuz and Atik, Mehmed M and others},
journal ={American Journal of Medical Genetics Part A},
volume ={167},
number ={11},
pages ={2795--2799},
year ={2015},
public ={yes}}{%endraw%}