Format

Send to

Choose Destination
J Pediatr. 2018 May;196:291-297.e2. doi: 10.1016/j.jpeds.2017.12.029. Epub 2018 Jan 11.

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.

Author information

1
Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
2
Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.
3
Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA; Stanford Children's Health, Palo Alto, CA.
4
Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA.
5
Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA; Department of Genetics, Stanford University School of Medicine, Stanford, CA.
6
Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA; Stanford Children's Health, Palo Alto, CA.
7
Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
8
Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA. Electronic address: wheelerm@stanford.edu.

KEYWORDS:

FOXG1; clinical research; diagnostic dilemma; diagnostic odyssey; genetic testing; secondary finding; whole exome sequencing

PMID:
29331327
PMCID:
PMC5924635
[Available on 2019-05-01]
DOI:
10.1016/j.jpeds.2017.12.029

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center