换一批Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
第一作者：
Yuri A,Zarate
第一单位：
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
作者：
Yuri A,Zarate [1]
;
Constance L,Smith-Hicks [2]
;
Carol,Greene [3]
;
Mary-Alice,Abbott [4]
;
Victoria M,Siu [5]
;
Amy R U L,Calhoun [6]
;
Arti,Pandya [7]
;
Chumei,Li [8]
;
Elizabeth A,Sellars [1]
;
Julie,Kaylor [9]
;
Katherine,Bosanko [1]
;
Louisa,Kalsner [10]
;
Alice,Basinger [11]
;
Anne M,Slavotinek [12]
;
Hazel,Perry [12]
;
Margarita,Saenz [13]
;
Marta,Szybowska [8]
;
Louise C,Wilson [14]
;
Ajith,Kumar [14]
;
Caroline,Brain [15]
;
Meena,Balasubramanian [16]
;
Holly,Dubbs [17]
;
Xilma R,Ortiz-Gonzalez [17]
;
Elaine,Zackai [17]
;
Quinn,Stein [18]
;
Cynthia M,Powell [7]
;
Samantha,Schrier Vergano [19]
;
Allison,Britt [20]
;
Angela,Sun [21]
;
Wendy,Smith [22]
;
E Martina,Bebin [23]
;
Jonathan,Picker [24]
;
Amelia,Kirby [25]
;
Hailey,Pinz [25]
;
Hannah,Bombei [6]
;
Sonal,Mahida [2]
;
Julie S,Cohen [2]
;
Ali,Fatemi [2]
;
Hilary J,Vernon [2]
;
Rebecca,McClellan [2]
;
Leah R,Fleming [26]
;
Brittney,Knyszek [26]
;
Michelle,Steinraths [27]
;
Cruz,Velasco Gonzalez [28]
;
Anita E,Beck [21]
;
Katie L,Golden-Grant [29]
;
Alena,Egense [3]
;
Aditi,Parikh [30]
;
Chantalle,Raimondi [31]
;
Brad,Angle [31]
;
William,Allen [32]
;
Suzanna,Schott [32]
;
Adi,Algrabli [33]
;
Nathaniel H,Robin [34]
;
Joseph W,Ray [20]
;
David B,Everman [35]
;
Michael J,Gambello [36]
;
Wendy K,Chung [37]
作者单位：
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
[1]
Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
[2]
Department of Pediatrics, University of Maryland Baltimore, Baltimore, Maryland.
[3]
Department of Pediatrics, Baystate Medical Center, Springfield, Massachusetts.
[4]
Division of Medical Genetics, Department of Pediatrics, University of Western Ontario, London, Ontario, Canada.
[5]
Division of Medical Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa.
[6]
Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
[7]
Clinical Genetics Program, McMaster University Medical Center, Hamilton, Ontario, Canada.
[8]
InformedDNA, St. Petersburg, Florida.
[9]
Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut Health Center, Farmington, Connecticut.
[10]
Cook Children's Physician Network, Fort Worth, Texas.
[11]
Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.
[12]
Children's Hospital Colorado, Aurora, Colorado.
[13]
Department of Genetics, Great Ormond Street for Children NHS Foundation Trust, London, UK.
[14]
Department of Endocrinology, Great Ormond Street for Children NHS Foundation Trust, London, UK.
[15]
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
[16]
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
[17]
Divisions of Pediatric Neurology and Genetics, Sanford Children's Specialty Clinic, Sanford Children's Hospital, Sioux Falls, South Dakota.
[18]
Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
[19]
Division of Medical Genetics, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
[20]
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.;Seattle Children's Hospital, Seattle, Washington.
[21]
Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, Maine.
[22]
Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama.
[23]
Boston Children's Hospital, Boston, Massachusetts.
[24]
Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis, Missouri.
[25]
Clinical Genetics and Genomics, St. Luke's Children's Hospital, Boise, Idaho.
[26]
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
[27]
Biostatistics Program, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
[28]
Seattle Children's Hospital, Seattle, Washington.
[29]
University of Toledo Department of Pediatrics, Toledo, Ohio.;University Hospitals Cleveland Medical Center, Cleveland, Ohio.;Department of Genetics and Genome Sciences Case Western Reserve University School of Medicine, Cleveland, Ohio.
[30]
Advocate Children's Hospital, Park Ridge, Illinois.
[31]
Fullerton Genetics Center, Asheville, North Carolina.
[32]
FDNA, Inc., Boston, Massachusetts.
[33]
University of Alabama at Birmingham, Birmingham, Alabama.
[34]
Greenwood Genetic Center, Greenwood, South Carolina.
[35]
Emory University School of Medicine, Atlanta, Georgia.
[36]
Department of Pediatrics and Medicine, Columbia University, New York, New York.
[37]
医学主题词
畸形, 多发性(Abnormalities, Multiple);青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);面容(Facies);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);基因型(Genotype);人类(Humans);婴儿(Infant);遗传方式(Inheritance Patterns);男(雄)性(Male);核基质附着区结合蛋白质类(Matrix Attachment Region Binding Proteins);表型(Phenotype);多态性, 单核苷酸(Polymorphism, Single Nucleotide);综合征(Syndrome);转录因子(Transcription Factors);青年人(Young Adult)
DOI
10.1002/ajmg.a.38630
PMID
29436146
发布时间
2020-09-30
- 浏览36
American journal of medical genetics. Part A
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