Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation

Clin Dysmorphol. 2014 Jul;23(3):88-94. doi: 10.1097/MCD.0000000000000034.

¹ Departments of Genetics Pediatrics Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine Department of Medicine, and UAB Osteoporosis Prevention and Treatment Clinic, Division of Clinical Immunology and Rheumatology, the University of Alabama at Birmingham, Birmingham, Alabama, USA Research Centre of Ste-Justine Hospital, Department of Medicine, University of Montreal Department of Medicine, University of Montreal, Montreal, Quebec, Canada.

No abstract available

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