End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome

Clinical consequences in truncating mutations in exon 34 ofNOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome

(2013) Yoko Narumi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Therapeutic targeting of NOTCH signaling ameliorates immune-mediated bone marrow failure of aplastic anemia

(2013) Justine E. Roderick et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Inflammation-Mediated Notch Signaling Skews Fanconi Anemia Hematopoietic Stem Cell Differentiation

(2013) W. Du et al.   JOURNAL OF IMMUNOLOGY

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome

(2011) Mary J Gray et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

(2011) Bertrand Isidor et al.   NATURE GENETICS

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

(2011) Michael A Simpson et al.   NATURE GENETICS

Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome

(2010) Jean-Pierre Fryns et al.   CLINICAL GENETICS