Art

J-GLOBAL ID：201402284513003706   Reference number：14A0735849

Compound Heterozygous Deletions in Pseudoautosomal Region 1 in an Infant With Mild Manifestations of Langer Mesomelic Dysplasia

ランガー中脚形成異常の軽度症状発現乳児における偽常染色体領域1での複合ヘテロ接合体欠失

Author (12)： TSUCHIYA Takayoshi (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  TSUCHIYA Takayoshi (Dokkyo Medical Univ. Koshigaya Hospital, Koshigaya, JPN) ,  SHIBATA Minoru (Kyoto Univ. Hospital, Kyoto, JPN) ,  NUMABE Hironao (Kyoto Univ. Hospital, Kyoto, JPN) ,  NUMABE Hironao (Ochanomizu Univ., Tokyo, JPN) ,  JINNO Tomoko (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  NAKABAYASHI Kazuhiko (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  NISHIMURA Gen (Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN) ,  NAGAI Toshiro (Dokkyo Medical Univ. Koshigaya Hospital, Koshigaya, JPN) ,  OGATA Tsutomu (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  OGATA Tsutomu (Hamamatsu Univ. School of Medicine, Hamamatsu, JPN) ,  FUKAMI Maki (National Res. Inst. for Child Health and Dev., Tokyo, JPN)
Material： American Journal of Medical Genetics. Part A  (Am J Med Genet Part A)
Volume： 164A  Issue： 2  Page： 505-510  Publication year： Feb. 2014 
JST Material Number： E0725C  ISSN： 1552-4825  Document type： Article
Country of issue： United States (USA)  Language： ENGLISH (EN)

Terms in the title (6)： 軽度 ,  症状発現 ,  乳児 ,  偽常染色体領域 ,  複合ヘテロ接合体 ,  欠失