European Human Genetics Conference 2012, Young Investigator Award FinalistRie Kawamura, Hideyuki Tanabe, Takahito Wada, Shinji Saitoh, Yoshimitsu Fukushima, Keiko Wakui
American journal of medical genetics. Part A 152A(6) 1333-46 2010年6月
We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the kyphoscoliosis type Ehlers-Danlos syndrome (EDS) but without lysyl hydroxylase deficiency [Kosho et al. (2005) Am J Med Genet ...
American journal of medical genetics. Part A 152A(3) 764-9 2010年3月
Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in CRLF1 (cytokine receptor-like factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features...
American journal of medical genetics. Part A 152A(2) 417-21 2010年2月
Loeys-Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor beta receptor type 1 (TGFBR1) or type 2 (TGFBR2) genes. We report on a neonat...
American journal of medical genetics. Part A 146A(22) 2891-7 2008年11月
Monosomy 1p36 is a common subtelomeric microdeletion syndrome, characterized by craniofacial dysmorphisms, developmental delay, mental retardation, hypotonia, epilepsy, cardiovascular complications, and hearing impairment; deleted regions have bee...