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multiple intestinal atresias

Saturday 4 August 2007

Digital slide

- NCK1-91 : Multiple intestinal atresia syndrome

Etiology

- multiple intestinal atresias in Feingold syndrome with NMYC haploinsufficiency (15821734)

Associations

- apple peel syndrome (12891506)
- severe combined immunodeficiency syndrome (SCID) (2240032)
- anal imperforation (imperforate anus) (2202215)

References

- van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet. 2005 May;37(5):465-7. PMID: 15821734

- Moreno, L. A.; Gottrand, F.; Turck, D.; Manouvrier-Hanu, S.; Mazingue, F.; Morisot, C.; Le Deist, F.; Ricour, C.; Nihoul-Fekete, C.; Debeugny, P.; Griscelli, C.; Farriaux, J.-P. : Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. Am. J. Med. Genet. 37: 143-146, 1990. PubMed ID : 2240032

- Shen-Schwarz, S.; Fitko, R. : Multiple gastrointestinal atresias with imperforate anus: pathology and pathogenesis. Am. J. Med. Genet. 36: 451-455, 1990. PubMed ID : 2202215

Portfolio

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  • Jejunal atresia in multiple intestinal atresia syndrome
  • Jejunal atresia in multiple intestinal atresia syndrome