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Paper Details

Exome sequencing identifies de novo pathogenic variants in <i>FBN1</i> and <i>TRPS1</i> in a patient with a complex connective tissue phenotype.
Cold Spring Harb Mol Case Stud
6
2017
FBN1, Fibrillin 1, Marfan syndrome, TRPS1, Undiagnosed Diseases, autosomal dominant conditions, congenital diaphragmatic hernia, dysmorphic features, hypotonia, inguinal hernia, joint laxity, patient, trichorhinophalangeal syndrome types I and III, umbilical hernia
Author NameAffiliation
Annika M DriesStanford Center for Undiagnosed Diseases, Stanford University
Annika M DriesStanford University
Jennefer N KohlerStanford Center for Undiagnosed Diseases, Stanford University
Jennefer N KohlerStanford University
Liliana FernandezStanford Center for Undiagnosed Diseases, Stanford University
Liliana FernandezStanford University
Daryl WaggottStanford Center for Undiagnosed Diseases, Stanford University
Daryl WaggottStanford University
Paul G FisherStanford Center for Undiagnosed Diseases, Stanford University
Paul G FisherStanford School of Medicine
Paul G FisherStanford School of Medicine
Euan A AshleyStanford Center for Undiagnosed Diseases, Stanford University
Euan A AshleyStanford University
Euan A AshleyStanford School of Medicine
Jonathan A BernsteinStanford Center for Undiagnosed Diseases, Stanford University
Jonathan A BernsteinStanford School of Medicine
Jonathan A BernsteinLucille Packard Children's Hospital Stanford
Matthew T WheelerStanford Center for Undiagnosed Diseases, Stanford University
Matthew T WheelerStanford University
Matthew T WheelerStanford Center for Undiagnosed Diseases, Stanford University
Matthew T WheelerStanford University
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Release 1.2