换一批Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
第一作者：
Glinton, Kevin E.
作者：
Glinton, Kevin E. [1]
;
Hurst, Anna C. E. [2]
;
Bowling, Kevin M. [3]
;
Cristian, Ingrid [4]
;
Haynes, Devon [5]
;
Adstamongkonkul, Dusit [6]
;
Schnappauf, Oskar [7]
;
Beck, David B. [8]
;
Brewer, Carole [9]
;
Parikh, Aditi Shah [10]
;
Shinde, Deepali N. [11]
;
Donaldson, Alan [12]
;
Brautbar, Ariel [13]
;
Koene, Saskia [14]
;
van Haeringen, Arie [15]
;
Piton, Amelie [16]
;
Capri, Yline [17]
;
Furlan, Margherita [18]
;
Gardella, Elena [19]
;
Moller, Rikke Steensbjerre [20]
;
van de Beek, Irma [21]
;
Zuurbier, Linda [22]
;
Lakeman, Phillis [23]
;
Bayat, Allan [24]
;
Martinez, Julian [25]
;
Signer, Rebecca [26]
;
Torring, Pernille M. [27]
;
Engelund, Morten Buch [28]
;
Gripp, Karen W. [29]
;
Amlie-Wolf, Louise [30]
;
Henderson, Lindsay B. [31]
;
Midro, Alina T. [32]
;
Tarasow, Eugeniusz [33]
;
Stasiewicz-Jarocka, Beata ;
Moskal-Jasinska, Diana ;
Vos, Paul ;
Boschann, Felix ;
Stoltenburg, Corinna ;
Puk, Oliver ;
Mero, Inger-Lise ;
Lossius, Kristine ;
Mignot, Cyril ;
Keren, Boris ;
Acosta Guio, Johanna C. ;
Briceno, Ignacio ;
Gomez, Alberto ;
Yang, Yaping ;
Stankiewicz, Pawel
作者单位：
Arnold Palmer Hosp Children, Div Genet, Orlando Hlth, Orlando, FL USA
[1]
Danish Epilepsy Ctr, Dianalund, Denmark
[2]
UCLA, Depart Human Genet, David Geffen Sch Med, Los Angeles, CA USA
[3]
NemoursAlfred I duPont Hosp Children, Div Med Genet, Wilmington, DE USA
[4]
Pontificia Univ Javeriana, Fac Med, Inst Genet Humana, Bogota, DC, Colombia
[5]
Med Univ, Dept Clin Genet, PL-15089 Bialystok, Poland
[6]
Praxis Humangenet Tuebingen, Dept Genet Diagnost, Tubingen, Germany
[7]
Salpetriere Univ Hosp, AP HP, Dept Genet, Paris, France
[8]
Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,Rm ABBR R809, Houston, TX 77030 USA
[9]
Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands
[10]
Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA
[11]
Ambry Genet, Dept Clin Gen, Aliso Viejo, CA USA
[12]
HudsonAlpha Inst Biotechnol, Huntsville, AL USA
[13]
Royal Devon & Exeter NHS Fdn Trust, Peninsula Clin Genet Serv, Exeter, Devon, England
[14]
Odense Univ Hosp, Dept Clin Genet, Odense, Denmark
[15]
GeneDx, Gaithersburg, MD USA
[16]
Inst Med Genet & Humangenet, Berlin, Germany
[17]
Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, Amsterdam, Netherlands
[18]
Natl Human Genome Res Inst, NIH, Bethesda, MD USA
[19]
Sorbonne Univ, Dept Genet, Hop Trousseau Grp Hosp Pitie Salpetriere, AP HP, Paris, France
[20]
Med Univ, Dept Radiol, Bialystok, Poland
[21]
CoxHlth Pediat Specialties, CoxHlth, Springfield, MO USA
[22]
Univ Hosp Cleveland Med Ctr, Ctr Human Genet, Cleveland Hts, OH USA
[23]
Berlin Univ Med, Dept Neuropaediat, Charite, Berlin, Germany
[24]
Oslo Univ Hosp, Dept Med Genet, Oslo, Norway
[25]
Strasbourg Univ Hosp, Unite Genet Mol, Strasbourg Univ Hosp, 1 Pl Hop, Strasbourg, France
[26]
Cook Childrens Hosp, Med Genet Dept, Ft Worth, TX USA
[27]
Haga Teaching Hosp, Haga Teaching Hosp, Dept Pediat, The Hague, Netherlands
[28]
Inst Ortopedia Infantil Roosevelt, Especialista Genet Med, Bogota, Cundinamarca, Colombia
[29]
CHU Robert Debre, Serv Genet Clin, Paris, France
[30]
Med Univ, Dept Clin Phonoaudiol & Speech Therapy, Bialystok, Poland
[31]
Akershus Univ Hosp, Dept Pediat & Adolescent Med, Akershus, Norway
[32]
Univ Hosp Bristol NHS Fdn Trust, Clin Genet, Bristol, Avon, England
[33]
发布时间
2021-07-09
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American journal of medical genetics, Part A
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