BRAT1 biallelic variations: phenotypic spectrum and phenotype-genotype correlation from 91 cases

被引：0

作者：

Engel, Camille ^{[1
]}

Valence, Stephanie ^{[2
]}

Delplancq, Geoffroy ^{[1
]}

Maroofian, Reza ^{[3
]}

Kuentz, Paul ^{[4
]}

Cabrol, Christelle ^{[1
]}

Brischoux-Boucher, Elise ^{[1
]}

Salpietro, Vincenzo ^{[5
,6
]}

Villard, Laurent ^{[7
]}

Doco-Fenzy, Martine ^{[8
]}

Odent, Sylvie ^{[9
]}

Morris-Rosendahl, Deborah ^{[10
,11
]}

Zaki, Maha ^{[12
]}

Gerard, Marion ^{[13
]}

Brusco, Alfredo ^{[14
]}

Putoux, Audrey ^{[15
,16
]}

Poulton, Cathryn ^{[17
]}

Coubes, Christine ^{[18
]}

Mignot, Cyril ^{[19
]}

Bubshait, Dalal ^{[20
]}

Kraus, Dror ^{[21
]}

Alkuraya, Fowzan ^{[22
]}

Scheffer, Ingrid ^{[23
,24
,25
,26
]}

Engels, Hartmut ^{[27
,28
]}

Wagner, Johanna ^{[29
]}

Gleeson, Joseph ^{[30
,31
]}

Kutsche, Kerstin ^{[32
]}

Massingham, Laure ^{[33
]}

Pasquier, Laurent ^{[34
]}

Penney, Lynette ^{[35
]}

Cilio, Maria Roberta ^{[36
]}

Cornet, Marie-Coralie ^{[37
]}

Di Giacomo, Marilena Carmela ^{[38
]}

Rio, Marlene ^{[39
]}

Wagner, Matias ^{[40
,41
]}

Striano, Pasquale ^{[5
,6
]}

Straussberg, Rachel ^{[42
,43
]}

Kaiyrzhanov, Rauan ^{[44
]}

Srivastava, Siddarth ^{[45
]}

Baglioni, Valentina ^{[46
]}

Vitobello, Antonio ^{[47
,48
]}

Rougeot, Christelle ^{[49
]}

Valente, Enza Maria ^{[50
]}

Houlden, Henry ^{[3
]}

Goffeney, Joanna ^{[51
]}

Bruel, Ange-Line ^{[48
]}

Schneider, Amy ^{[52
]}

Vanmaldergem, Lionel ^{[1
]}

Burglen, Lydie ^{[53
]}

Piard, Juliette ^{[1
]}

机构：

[1] CHU Besancon, Human Genet, Besancon, France

[2] Sorbonne Univ, Hop Armand Trousseau, APHP, Neurol Pediat, Paris, France

[3] UCL, UCL Queen Sq Inst Neurol, Neuromuscular Dis UCL Queen Sq Inst Neurol, London, England

[4] CHU Besancon, Cytogenet, Besancon, France

[5] Univ Genoa, Neurosci, Rehabil, Ophthalmol,Genet,Maternal & Child Hlth, Genoa, Italy

[6] IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Genoa, Italy

[7] Hop Enfants La Timone, AP HM, Genet Med, Marseille, France

[8] CHU Reims, Genet, Reims, France

[9] CHU Rennes Hop Sud, Genet Clin, Rennes, France

[10] Imperial Coll London, London, England

[11] Guys & St Thomas NHS Fdn Trust, Royal Brompton, Clin Genet & Genom Lab, London, England

[12] Natl Res Ctr, Clin Genet, Cairo, Egypt

[13] Cote Nacre Univ Hosp Ctr, Clin Gentet, Caen, France

[14] Univ Torino, Med Sci, Turin, Italy

[15] Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy

[16] Hosp Civils Lyon, Genet, Bron, France

[17] King Edward Mem Hosp, Genet Serv Western Australia, Perth, Australia

[18] CHU Montpellier, Genet Med, Malad Rares & Medecine Personnalisee, Hop Arnaud Villeneuve, Montpellier, France

[19] Hop La Pitie Salpetriere, APHP, Genet, Paris, France

[20] Univ Dammam, Pediat, King Fahd Hosp Univ, Coll Med, Dammam, Saudi Arabia

[21] Schneider Childrens Med Ctr Israel, Neurol, Petah Tiqwa, Israel

[22] King Faisal Specialist Hosp & Res Ctr, Genet, Riyadh, Saudi Arabia

[23] Austin Hlth, Melbourne, Vic, Australia

[24] Royal Childrens Hosp, Melbourne, Vic, Australia

[25] Florey Inst, Melbourne, Vic, Australia

[26] Murdoch Childrens Res Inst, Genet, Melbourne, Vic, Australia

[27] Univ Bonn, Sch Med, Bonn, Germany

[28] Univ Hosp Bonn, Human Genet, Bonn, Germany

[29] Ludwig Maximilians Univ Munchen, Ctr Integrated Prot Sci Munich CiPSM, Pharm Ctr Drug Res, Munich, Germany

[30] Univ Calif San Diego, Howard Hughes Med Inst, Neurosci, San Diego, CA USA

[31] Rady Childrens Inst Genom Med, Rady Childrens Hosp, San Diego, CA USA

[32] Univ Med Ctr Hamburg Eppendorf, Human Genet, Hamburg, Germany

[33] Hasbro Childrens Hosp, Div Med Genet, Dept Pediat, Providence, RI USA

[34] Ctr Hosp Univ Rennes, Genet Clin, Rennes, France

[35] Dalhousie Univ, IWK Hlth Ctr, Pediat, Halifax, NS, Canada

[36] Catholic Univ Louvain, St Luc Univ Hosp, Pediat, Brussels, Belgium

[37] Univ Calif San Francisco, Pediat, San Francisco, CA USA

[38] San Carlo Hosp, Med Genet Serv & Lab Cytogenet, SIC Anat Patol, Potenza, Italy

[39] Hop Necker Enfants Malad, APHP Inst Imagine, Genet, Paris, France

[40] Univ Munich, Human Genet, Munich, Germany

[41] Helmholtz Ctr Munich, Neurogenom, Neuherberg, Germany

[42] Tel Aviv Univ, Fac Med, Tel Aviv, Israel

[43] Schneider Childrens Med Ctr Israel, Neurol Inst, Petah Tiqwa, Israel

[44] UCL, UCL Queen Sq Inst Neurol, London, England

[45] Boston Childrens Hosp, Neurol, Boston, MA USA

[46] Sapienza Univ Rome, Dept Human Neurosci, Inst Child & Adolescent Neuropsychiat, Rome, Italy

[47] Univ Bourgogne, Inserm UMR 1231, GAD Genet Anomalies Dev, Dijon, France

[48] Hop Enfants CHU Dijon, Ctr Genet, Dijon, France

[49] Hop Femme Mere Enfant, Neuropediat, Bron, France

[50] Univ Pavia, Dept Mol Med, IRCCS Mondino Fdn, Pavia, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P09.034.B

引用

页码：458 / 459

页数：2

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