换一批Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation (vol 21, pg 764, 2019)
第一作者：
Koczkowska, Magdalena
作者：
Koczkowska, Magdalena [1]
;
Callens, Tom [2]
;
Gomes, Alicia [3]
;
Sharp, Angela [4]
;
Chen, Yunjia [5]
;
Hicks, Alesha D. [6]
;
Aylsworth, Arthur S. [7]
;
Azizi, Amedeo A. [8]
;
Basel, Donald G. [9]
;
Bellus, Gary [10]
;
Bird, Lynne M. [11]
;
Blazo, Maria A. [12]
;
Burke, Leah W. [13]
;
Cannon, Ashley [14]
;
Collins, Felicity [15]
;
DeFilippo, Colette [16]
;
Denayer, Ellen [17]
;
Digilio, Maria C. [18]
;
Dills, Shelley K. [19]
;
Dosa, Laura [20]
;
Greenwood, Robert S. [21]
;
Griffis, Cristin [22]
;
Gupta, Punita [23]
;
Hachen, Rachel K. [24]
;
Hernandez-Chico, Concepcion [25]
;
Janssens, Sandra [26]
;
Jones, Kristi J. [27]
;
Jordan, Justin T. [28]
;
Kannu, Peter [29]
;
Korf, Bruce R. [30]
;
Lewis, Andrea M. [31]
;
Listernick, Robert H. [32]
;
Lonardo, Fortunato [33]
;
Mahoney, Maurice J. [34]
;
Ojeda, Mayra Martinez [35]
;
McDonald, Marie T. [36]
;
McDougall, Carey [37]
;
Mendelsohn, Nancy [38]
;
Miller, David T. [39]
;
Mori, Mari [40]
;
Oostenbrink, Rianne [41]
;
Perreault, Sebastien [42]
;
Pierpont, Mary Ella [43]
;
Piscopo, Carmelo [44]
;
Pond, Dinel A. [45]
;
Randolph, Linda M. [46]
;
Rauen, Katherine A. [47]
;
Rednam, Surya ;
Rutledge, S. Lane ;
Saletti, Veronica ;
Schaefer, G. Bradley ;
Schorry, Elizabeth K. ;
Scott, Daryl A. ;
Shugar, Andrea ;
Siqveland, Elizabeth ;
Starr, Lois J. ;
Syed, Ashraf ;
Trapane, Pamela L. ;
Ullrich, Nicole J. ;
Wakefield, Emily G. ;
Walsh, Laurence E. ;
Wangler, Michael F. ;
Zackai, Elaine ;
Claes, Kathleen B. M. ;
Wimmer, Katharina ;
van Minkelen, Rick ;
De Luca, Alessandro ;
Martin, Yolanda ;
Legius, Eric ;
Messiaen, Ludwine M.
作者单位：
Erasmus MC Sophia, Dept Gen Pediat, Rotterdam, Netherlands
[1]
Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA
[2]
AORN A Cardarelli, UOSC Med Genet, Naples, Italy
[3]
Univ N Carolina, Dept Pediat, Chapel Hill, NC 27515 USA
[4]
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA
[5]
Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA
[6]
Univ Iowa Hosp & Clin, Stead Family Dept Pediat, Iowa City, IA 52242 USA
[7]
CHU St Justine, Mother & Child Univ Hosp Ctr, Montreal, PQ, Canada
[8]
DCH Reg Med Ctr, Northport, AL USA
[9]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[10]
Boston Childrens Hosp, Dept Neurol, Boston, MA USA
[11]
Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium
[12]
Univ Arkansas Med Sci, Arkansas Childrens Hosp, Div Med Genet, Little Rock, AR 72205 USA
[13]
Hosp Univ Ramon & Cajal, Inst Hlth Res IRYCIS, Dept Genet, Madrid, Spain
[14]
UC Davis MIND Inst, Dept Pediat, Div Genom Med, Sacramento, CA USA
[15]
St Josephs Childrens Hosp, Neurofibromatosis Diagnost & Treatment Program, Paterson, NJ USA
[16]
KU Leuven Univ Leuven, Dept Human Genet, Leuven, Belgium
[17]
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands
[18]
Brown Univ, Dept Pediat, Warren Alpert Med Sch, Providence, RI 02912 USA
[19]
Baylor Coll Med, Dept Pediat, Sect Hematol Oncol, Houston, TX 77030 USA
[20]
IRCCS Casa Sollievo Sofferenza, Mol Genet Unit, Foggia, Italy
[21]
Univ Colorado, Sch Med, Childrens Hosp, Dept Clin Genet & Metab, Aurora, CO USA
[22]
IRCCS, Bambino Gesu Childrens, Med Genet Unit, Rome, Italy
[23]
IRCCS Fdn, Carlo Besta Neurol Inst, Dev Neurol Unit, Milan, Italy
[24]
Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA
[25]
Univ Vermont, Med Ctr, Clin Genet Program, Burlington, VT USA
[26]
Univ Minnesota, Dept Pediat & Ophthalmol, Minneapolis, MN USA
[27]
Med Univ Vienna, Dept Pediat & Adolescent Med, Div Neonatol Pediat Intens Care & Neuropediat
[28]
AOU Meyer, SOC Genet Med, Florence, Italy
[29]
Duke Univ, Sch Med, Dept Pediat, Div Med Genet, Durham, NC USA
[30]
Univ Southern Calif, Childrens Hosp Los Angeles, Keck Sch Med, Div Med Genet, Los Angeles, CA USA
[31]
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA
[32]
G Rummo Hosp, Med Genet Unit, Benevento, Italy
[33]
Med Univ Innsbruck, Div Human Genet, Innsbruck, Austria
[34]
Carolinas Med Ctr, Charlotte, NC 28203 USA
[35]
Univ Nebraska Med Ctr, Munroe Meyer Inst, Genet Med, Omaha, NE USA
[36]
Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada
[37]
Univ N Carolina, Sch Med, Dept Neurol, Div Child Neurol, Chapel Hill, NC 27515 USA
[38]
Childrens Hosp Philadelphia, Neurofibromatosis Program, Philadelphia, PA 19104 USA
[39]
Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
[40]
Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
[41]
Childrens Hosp Minnesota, Genom Med Program, Minneapolis, MN USA
[42]
Baylor Scott & White Hosp, Temple, TX USA
[43]
Yale Univ, Dept Genet, New Haven, CT USA
[44]
Childrens Hosp Westmead, Dept Clin Genet, Westmead, NSW, Australia
[45]
Indiana Univ Sch Med, Dept Neurol, Indianapolis, IN 46202 USA
[46]
Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA
[47]
发布时间
2019-11-26
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Genetics in medicine
Genetics in medicine
764-765页
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