Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis

Pediatric diverticular disease is extremely rare, with most cases associated with connective tissue disorders. We report an adolescent boy with syndromic features who presented with acute complicated sigmoid diverticulitis. Clinical exome sequencing analysis detected a 6.5-Mb region of homozygosity...

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Detalles Bibliográficos
Autores principales: Chan, Alvin P., Mulatinho, Milene, Iskander, Paul, Lee, Hane, Martinez-Agosto, Julian A., Yeh, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658016/
https://www.ncbi.nlm.nih.gov/pubmed/31620490
http://dx.doi.org/10.14309/crj.0000000000000021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658016/
https://www.ncbi.nlm.nih.gov/pubmed/31620490
http://dx.doi.org/10.14309/crj.0000000000000021

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