KEGG   DISEASE: 遠位肢前頭鼻異形成症
エントリ  
H02210                                                             
名称    
遠位肢前頭鼻異形成症
概要    
Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. The mutations in ZSWIM6 have been shown to underlie this disorder.
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
    H02210  遠位肢前頭鼻異形成症
病因遺伝子 
ZSWIM6 [HSA:57688] [KO:K25704]
リンク   
ICD-11: LD25.3
MeSH: C535657
OMIM: 603671
文献    
PMID:25105228
  著者
Smith JD, Hing AV, Clarke CM, Johnson NM, Perez FA, Park SS, Horst JA, Mecham B, Maves L, Nickerson DA, Cunningham ML
  タイトル
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
  雑誌
Am J Hum Genet 95:235-40 (2014)
DOI:10.1016/j.ajhg.2014.07.008
文献    
PMID:26706854
  著者
Twigg SR, Ousager LB, Miller KA, Zhou Y, Elalaoui SC, Sefiani A, Bak GS, Hove H, Hansen LK, Fagerberg CR, Tajir M, Wilkie AO
  タイトル
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
  雑誌
Clin Genet 90:270-5 (2016)
DOI:10.1111/cge.12721
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