机译:EP300和ANKRD11在表型重叠的患者ANKRD11中的病原变异
CNR Inst Ric Genet &
Biomed Pisa Italy;
CNR Inst Ric Genet &
Biomed Pisa Italy;
Osped San Bortolo UOC Pediat Vicenza Italy;
Coordinating Ctr Network Rare Dis Piedmont &
Aost Ctr Res Immunopathol &
Rare Dis Dept Clin &
CNR Inst Ric Genet &
Biomed Pisa Italy;
Univ Zaragoza Fac Med Hosp Clin Univ Lozano Blesa Dept Farmacol Fisiol ISS Aragon Zaragoza;
Univ Parma Maternal &
Child Dept Neonatol &
Neonatal Intens Care Unit Parma Italy;
Univ Zaragoza Fac Med Hosp Clin Univ Lozano Blesa Dept Farmacol Fisiol ISS Aragon Zaragoza;
Univ Zaragoza Fac Med Hosp Clin Univ Lozano Blesa Dept Farmacol Fisiol ISS Aragon Zaragoza;
Univ Zaragoza Fac Med Hosp Clin Univ Lozano Blesa Dept Farmacol Fisiol ISS Aragon Zaragoza;
CNR Inst Ric Genet &
Biomed Pisa Italy;
chromatin remodeling; Cornelia de Lange syndrome; KBG syndrome; Rubinstein-Taybi syndrome; transcription;
机译:EP300和ANKRD11在表型重叠的患者ANKRD11中的病原变异
机译:外显子组测序在患者中发现了一种新的EP300移码突变,该突变具有重叠的角质层综合征
机译:患者患者中的DE Novo HDAC2 HDAC2变体与Cornelia de Lange综合征表型一致
机译:3d Fottery头骨在Cornelia de Lange综合症
机译:Cornelia de Lange综合征和心脏缺陷的发展起源。
机译:通过外显子组测序鉴定的Cornelia de Lange综合征家族中SMC1A基因的新型致病变异(c.3178G A)
机译:EP300和ANKRD11在患者中的病原变异,表型重叠Cornelia de Lange综合征