KEGG   DISEASE: Floating-Harbor 症候群
エントリ  
H02082                                                             
名称    
Floating-Harbor 症候群
概要    
Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, 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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02082  Floating-Harbor 症候群
病因遺伝子 
SRCAP [HSA:10847] [KO:K11661]
リンク   
ICD-11: LD2F.1Y
MeSH: C537062
OMIM: 136140
文献    
PMID:20014123
  著者
Hendrickx JJ, Keymolen K, Desprechins B, Casselman J, Gordts F
  タイトル
Floating-Harbor syndrome associated with middle ear abnormalities.
  雑誌
Am J Med Genet A 152A:161-4 (2010)
DOI:10.1002/ajmg.a.33033
文献    
PMID:22265015
  著者
Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J, Majewski J, Bulman DE, White SM, Boycott KM
  タイトル
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
  雑誌
Am J Hum Genet 90:308-13 (2012)
DOI:10.1016/j.ajhg.2011.12.001
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