Johanson-Blizzard syndrome

World Journal of Gastroenterology

Volumn 17, Issue 37, 2011, Pages 4247-4250

  Almashraki, Nabeel ^a   Abdulnabee, Mukarram Zainuddin ^a   Sukalo, Maja ^b   Alrajoudi, Abdullah ^a   Sharafadeen, Iman ^a   Zenke, Martin ^b  

^a Al Thawra Hospital   (Yemen)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

Alae nasi aplasia; Anemia; Cutis aplasia; Exocrine pancreatic insufficiency; Johanson Blizzard syndrome

Indexed keywords

ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD TRANSFUSION; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FAILURE TO THRIVE; GENE; GENE MUTATION; GENITAL MALFORMATION; HEARING LOSS; HOMOZYGOSITY; HUMAN; HYPOTHYROIDISM; INFANT; JOHANSON BLIZZARD SYNDROME; MALE; MENTAL DEFICIENCY; NOSE ALA; PANCREAS INSUFFICIENCY; RARE DISEASE; SCALP; SKIN APLASIA; SYMPTOM; THROMBOCYTOPENIA; TOOTH DISEASE; UBR1 GENE; URINARY TRACT MALFORMATION;

EID: 80555134757     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.v17.i37.4247     Document Type: Article

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