Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype

Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluati...

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Detalles Bibliográficos
Autores principales: Zastrow, Diane B., Zornio, Patricia A., Dries, Annika, Kohler, Jennefer, Fernandez, Liliana, Waggott, Daryl, Walkiewicz, Magdalena, Eng, Christine M., Manning, Melanie A., Farrelly, Ellyn, Fisher, Paul G., Ashley, Euan A., Bernstein, Jonathan A., Wheeler, Matthew T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5171698/
https://www.ncbi.nlm.nih.gov/pubmed/28050602
http://dx.doi.org/10.1101/mcs.a001388

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5171698/
https://www.ncbi.nlm.nih.gov/pubmed/28050602
http://dx.doi.org/10.1101/mcs.a001388

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