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A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene
We report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented with craniofacial dysmorphic features and central nervo...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2019
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6688876/ https://ncbi.nlm.nih.gov/pubmed/31406620 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1677551 |
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