Familial intestinal polyatresia syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1995.tb04304.x/fullpdf
Reference8 articles.
1. Mucoviscidosis and intestinal atresia. A study of four cases in the same family;Blanck;Acta Paediatr Scand,1965
2. Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum;Guttman;J Pediatr Surg,1973
3. Multiple gastrointestinal atresias: sonography of associated biliary abnormalities;McHugh;Pediatr Radiol,1991
4. Familial multiple-level intestinal atresias. Report of two siblings;Mishalang;J Pediatr,1971
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1. Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency;Clinical Genetics;2015-01-23
2. Multiple intestinal atresia with combined immune deficiency;Current Opinion in Pediatrics;2014-12
3. Mutations in tetratricopeptide repeat domain 7A (TTC7A) are associated with combined immunodeficiency with dendriform lung ossification but no intestinal atresia;LymphoSign Journal;2014-09-01
4. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias;Journal of Allergy and Clinical Immunology;2013-09
5. A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia;Journal of Pediatric Surgery;2006-11
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