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

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Bibliographische Detailangaben
Veröffentlicht in:	The Journal of pediatrics 2018-05, Vol.196, p.291-297.e2
Hauptverfasser:	Reuter, Chloe M., Brimble, Elise, DeFilippo, Colette, Dries, Annika M., Enns, Gregory M., Ashley, Euan A., Bernstein, Jonathan A., Fisher, Paul Graham, Wheeler, Matthew T.
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool clinical research diagnostic dilemma diagnostic odyssey Forkhead Transcription Factors - genetics FOXG1 genetic testing Genetic Testing - methods Genotype Government Programs - methods Humans Male Mutation National Institutes of Health (U.S.) - organization & administration NAV1.5 Voltage-Gated Sodium Channel - genetics Nerve Tissue Proteins - genetics Phenotype Rare Diseases - diagnosis Rare Diseases - genetics secondary finding United States whole exome sequencing
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