Bullous ichthyosiform erythroderma, developmental delay, aortic and pulmonary stenosis in association with a FRA12A

Clinical Dysmorphology

Volumn 9, Issue 3, 2000, Pages 213-219

  Berg, Jonathan ^a   Grace, Elizabeth ^a   Teik, Keng Wee ^a   Hammond, Helen ^b   Tidman, Michael ^c   FitzPatrick, David ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b ST JOHN'S HOSPITAL   (United Kingdom)

^c ROYAL INFIRMARY OF EDINBURGH   (United Kingdom)

Author keywords

Anticipation; Bullous ichthyosiform erythroderma; Chromosome 12; Congenital heart disease; Rare autosomal folate sensitive fragile site; Trinucleotide repeat expansion

Indexed keywords

AORTA VALVE STENOSIS; ARTICLE; BULLOUS SKIN DISEASE; CASE REPORT; CHILD; CHROMOSOME 12Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FEMALE; HUMAN; LEARNING DISORDER; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; TRINUCLEOTIDE REPEAT;

EID: 0033946463     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200009030-00012     Document Type: Article

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