エントリ 名称 Richieri-Costa-Pereira 症候群
概要 Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, and limb anomalies. This disorder is caused by decreased levels of EIF4A3, mostly due to an increased number of repeats at the 5'untranslated region (UTR) of EIF4A3.
カテゴリ 先天奇形
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy パスウェイ 病因遺伝子 コメント The triad of micrognathia, glossoptosis, and resultant airway obstruction is known as Robin sequence.
リンク 文献 著者 Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR
タイトル A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
雑誌 文献 著者 Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR
タイトル Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.
雑誌 文献 著者 Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML
タイトル Robin sequence: from diagnosis to development of an effective management plan.
雑誌 LinkDB All DBs
