Disease: Serpentine fibula polycystic kidney syndrome
- A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity
- 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
- Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome
- End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome
- Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity
- Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease
- NOTCH2 related disorders: Description and review of the fetal presentation
- Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation
- Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients
- Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders
- Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome
- Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders
- Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?
- Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2
- The developmental biology of genetic Notch disorders