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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Dettagli Bibliografici
Pubblicato in:Cold Spring Harb Mol Case Stud
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2017
Soggetti:
Research Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5171698/
https://ncbi.nlm.nih.gov/pubmed/28050602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001388
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