Article
Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.
American journal of medical genetics. Part A - 1 Oct 2014
Martin Brett M, Ivanova Margarita H, Sarukhanov Anna, Kim Ashley, Power Patricia, Pugash Denise, Popescu Oana-Eugenia, Lachman Ralph S, Krakow Deborah, Patel Millan S
Abstract excerpt
Serpentine fibula polycystic kidney syndrome (SFPKS; OMIM600330) is a rare skeletal dysplasia with a characteristic phenotype that includes polycystic kidneys, S-shaped fibulas, and abnormal craniofacial features. SFPKS shares features with Alagille (AGS; OMIM) and Hajdu-Cheney (HCS; OMIM10250) syndromes. All three syndromes result from mutations in the gene that encodes NOTCH2, one of the receptors involved in...
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