Associated Papers
Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.
Ahmed S et al.
Annals of Medicine and Surgery (2012), 2021
The developmental biology of genetic Notch disorders.
Mašek J et al.
Development (cambridge, England), 2017
An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.
Lee GH et al.
Journal of Korean Medical Science, 2013
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.
Narumi Y et al.
American Journal of Medical Genetics. Part A, 2013
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