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Abstract

CASE REPORTClinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome by HyoIn Kim, SeongWoo Kim, HaRa Jeon, JiYong Kim, JongHa Yoo, MoonWoo Seong, SungSup Park

Cantú syndrome is characterized by congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia and is recognized as a rare syndrome. Although it has previously been reported that the majority of affected individuals have a relatively good prognosis, there are no reports on long-term follow up. Here we report the first case of Cantú syndrome in Korea and the associated changes in overall development with rehabilitation over several months.

DOI: 10.7754/Clin.Lab.2017.170107