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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

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第一作者： Aude-Annick,Suter

第一单位： Division of Human GeneticsDepartment of PaediatricsInselspitalUniversity of BernCH-3010BernSwitzerland; Department of Clinical ResearchUniversity of BernCH-3010BernSwitzerland.

作者： Aude-Annick,Suter ^[1] ; Peter,Itin ^[2] ; Karl,Heinimann ^[3] ; Munaza,Ahmed ^[4] ; Tazeen,Ashraf ^[5] ; Helen,Fryssira ^[6] ; Usha,Kini ^[7] ; Pablo,Lapunzina ^[8] ; Peter,Miny ^[3] ; Mette,Sommerlund ^[9] ; Mohnish,Suri ^[10] ; Signe,Vaeth ^[11] ; Pradeep,Vasudevan ^[12] ; Sabina,Gallati ^[1]

作者单位： Division of Human GeneticsDepartment of PaediatricsInselspitalUniversity of BernCH-3010BernSwitzerland; Department of Clinical ResearchUniversity of BernCH-3010BernSwitzerland. ^[1] Department of Dermatology University of Basel Basel Switzerland. ^[2] Medical Genetics University Hospital Basel Basel Switzerland. ^[3] Wessex Clinical Genetics Service University Hospital Southampton Southampton UK. ^[4] Department of Clinical Genetics Guys Hospital London UK. ^[5] Department of Clinical Genetics Agia Sophia Children's Hospital Athens Greece. ^[6] Department of Clinical Genetics Oxford University Hospitals NHS Trust Oxford UK. ^[7] INGEMM, Institute of Medical and Molecular Genetics University Hospital La Paz, IdiPAZ-CIBERER Madrid Spain. ^[8] Department of Dermatology Aarhus University Hospital Aarhus Denmark. ^[9] Departement of Clinical Genetics Nottingham University Hospitals NHS Trust City Hospital Campus Nottingham UK. ^[10] Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark. ^[11] Department of Clinical Genetics University Hospitals of Leicester NHS Trust Leicester Royal Infirmary Leicester UK. ^[12]

关键词 Poikiloderma with neutropenia RECQL4 gene Rothmund–Thomson Syndrome USB1 (C16orf57) gene

DOI 10.1002/mgg3.209

PMID 27247962

发布时间 2018-11-13

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Molecular genetics & genomic medicine

2016年4卷3期

359-66页

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Molecular genetics & genomic medicine

2016年4卷3期

359-66页

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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Molecular genetics & genomic medicine

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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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