| Where genetics and pathology meet: mulibrey nanism. | |
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MedLine Citation:
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PMID: 19347900 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mulibrey nanism is a rare autosomal recessive disorder with prenatal onset growth retardation (nanism) and dysmorphic features, including a wide range of abnormalities, such as cardiac disease (pericardial constriction, myocardial hypertrophy and fibrosis) and anomalies of muscle, liver, brain and eye, resulting in the acronym 'mulibrey'. This commentary summarizes recent analysis of the diverse pathologies seen in this syndrome and highlights the need for pathologists and geneticists to work together. Insights into the pathology of rare genetic syndromes may have important lessons for our understanding of much commoner conditions. |
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Authors:
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Frederik J Hes; Hans Morreau |
Publication Detail:
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Type: Comment; Journal Article |
Journal Detail:
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Title: The Journal of pathology Volume: 218 ISSN: 1096-9896 ISO Abbreviation: J. Pathol. Publication Date: 2009 Jun |
Date Detail:
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Created Date: 2009-05-11 Completed Date: 2009-06-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0204634 Medline TA: J Pathol Country: England |
Other Details:
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Languages: eng Pagination: 143-5 Citation Subset: IM |
Affiliation:
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Centre for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. f.j.hes@lumc.nl |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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pathology Eye / pathology Genes, Recessive Humans Liver / pathology Mulibrey Nanism / genetics*, pathology* Muscles / pathology Mutation Nuclear Proteins / genetics |
| Chemical | |
Reg. No./Substance:
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0/Nuclear Proteins; 0/TRIM37 protein, human |
| Comments/Corrections | |
Comment On:
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J Pathol. 2009 Jun;218(2):163-71
[PMID:
19334051
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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