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Please use this identifier to cite or link to this item: http://hdl.handle.net/123456789/2987

Title: Johanson–blizzard syndrome: report of a novel mutation and severe liver involvement
Authors: Al-Dosari, Mohammed S.
Al-Muhsen, Saleh
Al-Jazaeri, Ayman
Mayerle, Julia
Zenker, Martin
Alkuraya, Fowzan S.
Keywords: Neonatal giant cell hepatitis
Jaundice
Aberrant splicing
Alae nasi
Exocrine pancreatic insufficiency
Issue Date: 2008
Publisher: Wiley-Liss
Citation: American Journal of Medical Genetics: 146A (PartA); 1875–1879
Abstract: Johanson–Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, growth retardation, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus. We report on an infant with classical JBS who also has unusually severe neonatal cholestatic liver disease that progressed to liver fibrosis and portal hypertension. Sequencing of UBR1 revealed a previously unreported homozygous missense mutation in a consensus splice acceptor site (IVS12-1G>A). This report is the first to document severe liver involvement in JBS and raises the possibility that this could be a rare but genuine association.
URI: http://hdl.handle.net/123456789/2987
ISSN: 1552-4825
Appears in Collections:College of Medicine

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