Eponym: Johanson-Blizzard syndrome

European Journal of Pediatrics

Volumn 170, Issue 2, 2011, Pages 179-183

  Rezaei, Nima ^a,b   Sabbaghian, Mozhgan ^c   Liu, Zhifeng ^d   Zenker, Martin ^e  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d NANJING MEDICAL UNIVERSITY   (China)

^e UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

Johanson Blizzard syndrome; Pancreatic insufficiency; UBR1 gene

Indexed keywords

PANCREAS ENZYME; UBIQUITIN PROTEIN LIGASE E3;

ANORECTAL MALFORMATION; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; CONGENITAL HYPOTHYROIDISM; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; ENZYME REPLACEMENT; GENE; GENE MUTATION; HEARING AID; HEART DISEASE; HUMAN; HYPOPLASIA; JOHANSON BLIZZARD SYNDROME; MENTAL DEFICIENCY; MOLECULAR DIAGNOSIS; NOSE ALA; OLIGODONTIA; PALLIATIVE THERAPY; PANCREAS EXOCRINE INSUFFICIENCY; PATHOGENESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; REVIEW; SCALP; SKIN APLASIA; SYNDROME; UBIQUITIN PROTEIN LIGASE E3 COMPONENT N RECOGNIN 1 GENE; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD; DEAFNESS; ECTODERMAL DYSPLASIA; EPONYMS; EXOCRINE PANCREATIC INSUFFICIENCY; HUMANS; HYPOTHYROIDISM; NOSE; PANCREATIC DISEASES; UBIQUITIN-PROTEIN LIGASES;

EID: 78951487891     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-010-1240-5     Document Type: Review

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