机译:由FKBP14中的双层突变引起的17例盲肠蛋白酶综合征的17名患者:扩大临床和突变谱和自然历史的描述
Univ Childrens Hosp Div Metab Connect Tissue Unit Zurich Switzerland;
Med Univ Innsbruck Pediat Neurol Dept Pediat 1 Innsbruck Austria;
Med Univ Innsbruck Div Human Genet Innsbruck Austria;
Univ Childrens Hosp Div Metab Connect Tissue Unit Zurich Switzerland;
Univ Alexandria Med Res Inst Human Genet Dept Alexandria Egypt;
Northwick Pk &
St Marks Hosp Natl Diagnost Serv Ehlers Danlos Syndrome Harrow Middx England;
Mercy Clin Pediat Neurol Springfield MO USA;
Goryeb Childrens Hosp Pediat Neurol Morristown NJ USA;
NINDS Neuromuscular &
Neurogenet Disorders Childhood Se NIH Bldg 36 Rm 4D04 Bethesda MD 20892;
Northwick Pk &
St Marks Hosp Natl Diagnost Serv Ehlers Danlos Syndrome Harrow Middx England;
Sheffield Childrens Hosp Ehlers Danlos Syndrome Natl Diagnost Serv Sheffield S Yorkshire England;
Kariminejad Najmabadi Pathol &
Genet Ctr Tehran Iran;
Paracelsus Med Univ Salzburg Dept Pediat Salzburg Austria;
Univ Basel Med Fac Basel Switzerland;
St Georges Univ Hosp NHS Fdn Trust South West Thames Reg Genet Serv London England;
Univ Hosp Ctr Split Dept Pediat Split Croatia;
Great Ormond St Hosp Sick Children UCL Inst Child Hlth Dubowitz Neuromuscular Ctr London England;
West Midlands Reg Clin Genet Serv Birmingham W Midlands England;
Med Univ Silesia Dept Pediat Neurol Katowice Poland;
Sheffield Childrens NHS Fdn Trust Sheffield Diagnost Genet Serv Sheffield S Yorkshire England;
Childrens Hosp Dept Pediat Neurol Kassel Germany;
Nottingham City Hosp Nottingham Clin Genet Serv Nottingham England;
Sheffield Childrens Hosp Ehlers Danlos Syndrome Natl Diagnost Serv Sheffield S Yorkshire England;
IWK Hlth Ctr Maritime Med Genet Serv Halifax NS Canada;
Med Univ Innsbruck Div Human Genet Innsbruck Austria;
Med Univ Innsbruck Div Human Genet Innsbruck Austria;
Kennedy Galton Ctr North West Thames Reg Genet Serv London England;
NINDS Neuromuscular &
Neurogenet Disorders Childhood Se NIH Bldg 36 Rm 4D04 Bethesda MD 20892;
Univ Childrens Hosp Div Metab Connect Tissue Unit Zurich Switzerland;
diagnostic criteria; FKBP14; FKBP22; kyphoscoliotic Ehlers-Danlos syndrome; mutations;
机译:由FKBP14中的双层突变引起的17例盲肠蛋白酶综合征的17名患者:扩大临床和突变谱和自然历史的描述
机译:FKBP14中的突变会导致Ehlers-Danlos综合征的变体,并伴有进行性脊柱后凸,肌病和听力下降
机译:通过双等位基因UBE3B突变扩大考夫曼眼脑面部综合征的临床和突变谱
机译:新加坡巴鲁达综合征患者SCN5A基因突变的谱
机译:由FKBP14中的双等位基因突变导致的17名脊柱后凸性Ehlers-Danlos综合征患者队列:临床和突变谱的扩展以及自然史的描述
机译:由FKBp14中的双等位基因突变引起的17名患有kyphoscoliotic Ehlers-Danlos综合征的患者的队列:临床和突变谱的扩展和自然史的描述。