The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boy.
Iwanczak
Franciszek
F
Department of Paediatrics, Gastroenterology and Nutrition, Medical University, Wroclaw, Poland. gastrped@gastro.am.wroc.pl
Smigiel
Robert
R
Blitek
Aleksander
A
Huebner
Angela
A
D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D015352:Dry Eye Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins