WebDec 15, 2011 · Woodhouse–Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, deafness, diabetes mellitus and progressive extrapyramidal defects.Mutations in the gene C2orf37 are the cause of Woodhouse–Sakati syndrome. In the present study, a four … WebNov 2, 2010 · C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients. Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disorder that …

C2orf37 mutational spectrum in Woodhouse-Sakati …

WebBioz Stars score, Techniques, Protocol Conditions and more for C2orf37 Rabbit Polyclonal Antibody, supplied by WuXi AppTec. Data for C2orf37 Rabbit Polyclonal Antibody gathered from related PubMed articles. WebSep 30, 2011 · How to Cite this Article: Ben‐Omran T, Ali R, Almureikhi M, Alameer S, Al‐Saffar M, Walsh CA, Felie JM, Teebi A. 2011. Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene. Am J Med Genet Part A 155: 2647–2653. how is 3d food printing used on earth

A novel splice site mutation in gene C2orf37 underlying …

WebSep 9, 2013 · Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister. Nine C2orf37 mutations causing WSS have been identified. This family shared the mutation reported earlier in Saudi … WebApr 1, 2015 · C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients. Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia ... WebAug 23, 2015 · A mutation in the C2orf37 gene was described as the cause of WSS in 2008 in the Saudi families including the ones originally described by Woodhouse and Sakati … how is 3d printing used in the medical field