ロード中...

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

BACKGROUND: Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexuses along a variable portion of the intestinal tract. In approximately 18% of the cases HSCR also presents with multiple congeni...

詳細記述

保存先:
書誌詳細
主要な著者: Fernández, Raquel M, Núñez-Torres, Rocío, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2010
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2955569/
https://ncbi.nlm.nih.gov/pubmed/20860806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-137
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!