换一批Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
第一作者：
Piard, J.
作者：
Piard, J. [1]
;
Aral, B. [2]
;
Vabres, P. [3]
;
Holder-Espinasse, M. [4]
;
Megarbane, A. [5]
;
Gauthier, S. [6]
;
Capra, V. [7]
;
Pierquin, G. [8]
;
Callier, P. [9]
;
Baumann, C. [10]
;
Pasquier, L. [11]
;
Baujat, G. [12]
;
Martorell, L. [13]
;
Rodriguez, A. [14]
;
Brady, A. F. [15]
;
Boralevi, F. [16]
;
Gonzalez-Ensenat, M. A. [17]
;
Rio, M. [18]
;
Bodemer, C. [19]
;
Philip, N. [20]
;
Cordier, M. P. [21]
;
Goldenberg, A. [22]
;
Demeer, B. [23]
;
Wright, M. [24]
;
Blair, E. [25]
;
Puzenat, E. [26]
;
Parent, P. [27]
;
Sznajer, Y. [28]
;
Francannet, C. [29]
;
DiDonato, N. [30]
;
Boute, O. [31]
;
Barlogis, V. [32]
;
Moldovan, O. [33]
;
Bessis, D. [34]
;
Coubes, C. [35]
;
Tardieu, M. ;
Cormier-Daire, V. ;
Sousa, A. B. ;
Franques, J. ;
Toutain, A. ;
Tajir, M. ;
Elalaoui, S. C. ;
Genevieve, D. ;
Thevenon, J. ;
Courcet, J. B. ;
Riviere, J. B. ;
Collet, C. ;
Gigot, N. ;
Faivre, L. ;
Thauvin-Robinet, C.
作者单位：
Hop Enfants La Timone, AP HP, Ctr Reference Malad Neuromusculaires & SLA, Marseille, France
[1]
APHM, Serv Hematol Pediat, Marseille, France
[2]
Univ Bourgogne, EA GAD 4271, IFR Sante STIC, Dijon, France
[3]
Inst Natl Hyg, Dept Genet Med, Rabat, Morocco
[4]
Hop Bicetre, AP HP, Serv Neuropediat, Paris, France
[5]
CHU Rouen, Unite Genet Med, Rouen, France
[6]
Hosp St Joan de Deu, Jefe Dermatol Pediat, Barcelona, Spain
[7]
Hop Robert Debre, AP HP, Ctr Reference Malad Rares Anomalies Dev & Syndrom, F-75019 Paris, France
[8]
UCL, Clin Univ St Luc, Ctr Genet Humaine, Brussels, Belgium
[9]
Hop Necker Enfants Malad, AP HP, Dept Dermatol, Paris, France
[10]
Hosp Santa Maria, Serv Genet Med, Lisbon, Portugal
[11]
Ist Giannina Gaslini, UO Neurochirurg, Genoa, Italy
[12]
Hosp St Joan de Deu, Barcelona, Spain
[13]
Oxford Radcliffe Hosp NHS Trust, Oxford Genet Serv, Oxford, England
[14]
Hosp Univ Miguel Servet, Unidad Genet Clin, Zaragova, Spain
[15]
Newcastle Upon Tyne Hosp NHS Fdn Trust, Northern Genet Serv, Inst Human Genet, Newcastle Upon Tyne
[16]
CHU Montpellier, Serv Genet Med, Montpellier, France
[17]
Ctr Hosp Univ Lariboisiere, Serv Biochim & Biol Mol, Paris, France
[18]
Northwick Pk Hosp & Clin Res Ctr, North West Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1
[19]
CHU Amiens, Serv Genet Clin, Amiens, France
[20]
CHU Lille, Serv Genet, F-59037 Lille, France
[21]
Hop St Eloi, Serv Dermatol, Montpellier, France
[22]
CHU Clermont Ferrand, Serv Genet Med, Clermont Ferrand, France
[23]
APHM, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Marseille, France
[24]
Hop Pellegrin Enfants, Serv Dermatol Pediat, Bordeaux, France
[25]
Hop Necker Enfants Malad, AP HP, Dept Genet, Paris, France
[26]
Univ St Joseph, Unite Genet Med, Beirut, Lebanon
[27]
CHU Besancon, Serv Dermatol, F-25030 Besancon, France
[28]
CHU Dijon, Serv Genet, Dijon, France
[29]
ULB, Hop Erasme, Ctr Genet, Brussels, Belgium
[30]
CHU Brest, Serv Pediat & Genet Med, F-29285 Brest, France
[31]
CHU Tours, Serv Genet, Tours, France
[32]
HCL, HFME, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Lyon, France
[33]
CHU Rennes, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Rennes, France
[34]
Tech Univ Dresden, Inst Klin Genet, Dresden, Germany
[35]
发布时间
2017-04-15
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Clinical Genetics
Clinical Genetics
244-251页
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