第一单位：
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
作者：
Loren D M,Pena [1]
;
Yong-Hui,Jiang [1]
;
Kelly,Schoch [1]
;
Rebecca C,Spillmann [1]
;
Nicole,Walley [1]
;
Nicholas,Stong [2]
;
Sarah,Rapisardo Horn [3]
;
Jennifer A,Sullivan [1]
;
Allyn,McConkie-Rosell [1]
;
Sujay,Kansagra [4]
;
Edward C,Smith [4]
;
Mays,El-Dairi [5]
;
Jane,Bellet [6]
;
Martha Ann,Keels [7]
;
Joan,Jasien [4]
;
Peter G,Kranz [8]
;
Richard,Noel [9]
;
Shashi K,Nagaraj [10]
;
Robert K,Lark [11]
;
Daniel S G,Wechsler [12]
;
Daniela,Del Gaudio [13]
;
Marco L,Leung [13]
;
Laura G,Hendon [14]
;
Collette C,Parker [15]
;
Kelly L,Jones [16]
;
Undiagnosed Diseases Network Members [2]
;
David B,Goldstein [1]
;
Vandana,Shashi
作者单位：
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
[1]
Institute of Genomic Medicine, Columbia University, New York, New York, USA.
[2]
Department of Pathology, Duke University Medical Center,Durham, North Carolina, USA.
[3]
Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
[4]
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.
[5]
Departments of Dermatology and Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
[6]
Departments of Pediatrics and Surgery, Duke University Medical Center, Durham, North Carolina, USA.
[7]
Division of Neuroradiology, Department of Radiology, Duke University Medical Center, Durham, North Carolina, USA.
[8]
Division of Gastroenterology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
[9]
Division of Pediatric Nephrology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
[10]
Department of Orthopedic Surgery, Duke University Medical Center, Durham, North Carolina, USA.
[11]
Division of Pediatric Hematology-Oncology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
[12]
Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.
[13]
Division of Maternal Fetal Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA.
[14]
Division of Child Neurology, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
[15]
Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
[16]
DOI
10.1038/gim.2017.128
PMID
28914269
发布时间
2024-02-07
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