KEGG   DISEASE: 脊椎過剰分節および口腔顔面奇形
エントリ  
H02640                                                             
名称    
脊椎過剰分節および口腔顔面奇形
概要    
Vertebral hypersegmentation and orofacial anomalies (VHO) is a new orofacial clefting syndrome characterized by vertebral and rib hypersegmentation. It has been reported that mutations in GDF11 cause this disease.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD25  主な特徴として顔面または肢の異常を伴う症候群
    H02640  脊椎過剰分節および口腔顔面奇形
病因遺伝子 
GDF11 [HSA:10220] [KO:K22679]
リンク   
ICD-11: LD25.Y
OMIM: 619122
文献    
  著者
Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T
  タイトル
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
  雑誌
Hum Mutat 40:1813-1825 (2019)
DOI:10.1002/humu.23793
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