エントリ 名称 Martsolf 症候群
概要 Martsolf syndrome is a rare autosomal recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone and joint anomalies, and genital hypoplasia.
カテゴリ 先天奇形
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy 病因遺伝子 リンク 文献 著者 Harbord MG, Baraitser M, Wilson J
タイトル Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.
雑誌 文献 著者 Ehara H, Utsunomiya Y, Ieshima A, Maegaki Y, Nishimura G, Takeshita K, Ohno K
タイトル Martsolf syndrome in Japanese siblings.
雑誌 文献 著者 Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER
タイトル Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
雑誌 文献 著者 Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, Garcia-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA
タイトル Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
雑誌 LinkDB All DBs
