| A novel mutation in a Fijian boy with Shwachman-Diamond syndrome. | |
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MedLine Citation:
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PMID: 19816210 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and metaphyseal chondrodysplasia. SDS is associated with mutations in the Shwachman-Bodian-Diamond Syndrome gene, with 90% of reported mutations in exon 2. We present a Fijian boy with SDS who has a novel A>G substitution in exon 1 of the Shwachman-Bodian-Diamond Syndrome gene that has not been reported in the literature. This patient's unique clinical course includes the presence of a cleft lip and episodic hypoglycemia. SDS lacks a clear genotype-phenotype correlation, as is showed by the heterogeneity in its clinical presentation. |
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Authors:
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Aimee R Newman; Billur Moghaddam; Janet M Yoon |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of pediatric hematology/oncology Volume: 31 ISSN: 1536-3678 ISO Abbreviation: J. Pediatr. Hematol. Oncol. Publication Date: 2009 Nov |
Date Detail:
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Created Date: 2009-11-06 Completed Date: 2009-12-08 Revised Date: 2011-10-06 |
Medline Journal Info:
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Nlm Unique ID: 9505928 Medline TA: J Pediatr Hematol Oncol Country: United States |
Other Details:
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Languages: eng Pagination: 847-9 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of California, Davis Medical Center, Sacramento, CA, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
pathology Fiji Humans Infant, Newborn Male Mutation, Missense* Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Proteins; 0/SBDS protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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