Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Colpocephaly[original query] |
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De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay. Genetic counseling (Geneva, Switzerland) 2005 1 15 (4): 437-42. Chen C P, Lin S P, Chern S R, Lee C C, Huang J K, Wang W, Liao Y |
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies. Journal of human genetics 2021 5 66 (11): 1061-1068. Miyamoto Sachiko, Kato Mitsuhiro, Hiraide Takuya, Shiohama Tadashi, Goto Tomohide, Hojo Akira, Ebata Akio, Suzuki Manabu, Kobayashi Kozue, Chong Pin Fee, Kira Ryutaro, Matsushita Hiroko Baber, Ikeda Hiroko, Hoshino Kyoko, Matsufuji Mayumi, Moriyama Nobuko, Furuyama Masayuki, Yamamoto Tatsuya, Nakashima Mitsuko, Saitsu Hiroto |
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- Page last updated:Mar 25, 2024
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