Noriko Akimaru

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Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-clubfoot syndrome (ATCS; OMIM#601776) and a new type of Ehlers-Danlos syndrome (EDS) coined as EDS Kosho Type (EDSKT) [Miyake et al., 2010], as well as a subset of kyphoscoliosis type EDS without lysyl hydroxylase(More)
A patient with atypical phenotypes of Prader-Willi syndrome (PWS) was subjected to investigate genomic copy numbers by microarray-based comparative genomic hybridization analysis. Severe developmental delay, relative macrocephaly, protruding forehead, cardiac anomalies, and hydronephrosis were atypical for PWS. Concurrent deletions of 15q11-13 and 5q35(More)
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