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
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.
Descartes M et al.
Clinical Dysmorphology, 2014
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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