Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.

@article{Narumi2013ClinicalCI,
  title={Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.},
  author={Yoko Narumi and Byung-Joo Min and Kenji Shimizu and Itsuro Kazukawa and Kiyoko Sameshima and Koichi Nakamura and Tomoki Kosho and Yumie Rhee and Yoon Sok Chung and Ok-Hwa Kim and Yoshimitsu Fukushima and Woong-Yang Park and Gen Nishimura},
  journal={American journal of medical genetics. Part A},
  year={2013},
  volume={161A 3},
  pages={518-26}
}
It is debatable whether Hajdu-Cheney syndrome (HCS) and serpentine fibula-polycystic kidney syndrome (SFPKS) represent a single clinical entity with a variable degree of expression or two different entities, because both disorders share common clinical and radiological manifestations, including similar craniofacial characteristics, and defective bone mineralization. Since it was shown that heterozygous truncating mutations in NOTCH2 are responsible for both HCS and SFPKS, 37 patients with HCS… CONTINUE READING

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