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Annals of Plastic Surgery, ISSN 0148-7043, 01/2017, Volume 78, Issue 1, pp. 73 - 77
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1660 - 1665
Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and... 
SPINK1 gene | pancreatic lipomatosis | chronic pancreatitis | exocrine pancreatic insufficiency | Alu insertion | SYSTEMATIC ANALYSIS | HEREDITARY PANCREATITIS | VARIANTS | SHWACHMAN-DIAMOND-SYNDROME | IDENTIFICATION | GENETICS & HEREDITY | IVS3+2T-GREATER-THAN-C MUTATION | SERINE-PROTEASE INHIBITOR | ACINAR-CELLS | CYSTIC-FIBROSIS | KAZAL TYPE-1 | Exocrine Pancreatic Insufficiency - genetics | Sequence Deletion | Cystic Fibrosis - physiopathology | Humans | Infant | Lipomatosis - diagnostic imaging | Pancreatic Diseases - diagnostic imaging | Trypsin Inhibitor, Kazal Pancreatic - genetics | Cystic Fibrosis - diagnostic imaging | Trypsin Inhibitor, Kazal Pancreatic - metabolism | Exocrine Pancreatic Insufficiency - physiopathology | Exocrine Pancreatic Insufficiency - diagnostic imaging | Female | Alu Elements - genetics | Pancreatic Diseases - physiopathology | Genetic Predisposition to Disease | Lipomatosis - physiopathology | Lipomatosis - genetics | Bone Marrow Diseases - physiopathology | Bone Marrow Diseases - genetics | Pancreatic Diseases - genetics | Homozygote | Magnetic Resonance Imaging | Phenotype | Bone Marrow Diseases - diagnostic imaging | Cystic Fibrosis - genetics | Mutagenesis, Insertional | Pancreatic diseases | Genes | Trypsin | 3' Untranslated regions | Insertion | Cystic fibrosis | Lipomatosis | Pancreatic secretory trypsin | Children | Pancreas | Gene deletion | Life Sciences | Biochemistry, Molecular Biology | Genomics
Journal Article
Medicine, ISSN 0025-7974, 01/2019, Volume 98, Issue 3, p. e14116
Journal Article
Journal Article