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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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| Publicado no: | ACG Case Rep J |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6658016/ https://ncbi.nlm.nih.gov/pubmed/31620490 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14309/crj.0000000000000021 |
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