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%}