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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2017
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Materias: | |
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 |
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