Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome

European Journal of Pediatrics

Volumn 170, Issue 2, 2011, Pages 233-235

  Fallahi, Gholam Hossein ^a   Sabbaghian, Mozhgan ^a   Khalili, Manijeh ^a   Parvaneh, Nima ^a   Zenker, Martin ^b   Rezaei, Nima ^a,c  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Alae nasi aplasia; Johanson Blizzard syndrome; Mutation; UBR1 gene

Indexed keywords

UBIQUITIN PROTEIN LIGASE E3;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; EXON; FECES ANALYSIS; GENE; GENE SEQUENCE; HEART MYXOMA; HUMAN; HYPOSPADIAS; HYPOTHYROIDISM; INFANT; JOHANSON BLIZZARD SYNDROME; MALE; NONSENSE MUTATION; NOSE ALA; NUCLEOTIDE SEQUENCE; PANCREAS EXOCRINE INSUFFICIENCY; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; SCALP; SHORT STATURE; SKIN APLASIA; SYNDROME; TETHERED CORD SYNDROME; UBIQUITIN PROTEIN LIGASE E3 COMPONENT N RECOGNIN 1 GENE;

CODON, NONSENSE; DEAFNESS; ECTODERMAL DYSPLASIA; EXOCRINE PANCREATIC INSUFFICIENCY; EXONS; HOMOZYGOTE; HUMANS; HYPOTHYROIDISM; INFANT; MALE; NOSE; PANCREATIC DISEASES; UBIQUITIN-PROTEIN LIGASES;

EID: 78951484743     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-010-1239-y     Document Type: Article

References (7)

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