| Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. | |
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MedLine Citation:
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PMID: 20661159 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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SUMMARY: A preterm neonate, born to consanguineous parents, presented with respiratory distress, intracerebral hemorrhage, and a silvery-gray sheen of the hair and eyelashes. Griscelli syndrome (GS) type 3 was diagnosed after the detection of a novel homozygous mutation of the melanophilin gene. Thus, only the hypopigmentation, but not the patient's other clinical features, were attributable to this form of GS. Differential diagnosis of the various forms of GS must be performed as early as possible as GS2 is associated with a life threatening but curable immune disorder. |
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Authors:
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Eman Al-Idrissi; Geyhad ElGhazali; Mofarah Alzahrani; Gaël Ménasché; Jana Pachlopnik Schmid; Geneviève de Saint Basile |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of pediatric hematology/oncology Volume: 32 ISSN: 1536-3678 ISO Abbreviation: J. Pediatr. Hematol. Oncol. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-06 Completed Date: 2010-08-20 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: 494-6 Citation Subset: IM |
Affiliation:
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Department of Immunology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adaptor Proteins, Signal Transducing
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genetics* Cerebral Hemorrhage / genetics* Child, Preschool Diagnosis, Differential Humans Infant, Newborn Infant, Premature Piebaldism / genetics*, physiopathology Premature Birth Respiratory Distress Syndrome, Newborn / genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Adaptor Proteins, Signal Transducing; 0/MLPH protein, human |
| Comments/Corrections | |
Erratum In:
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J Pediatr Hematol Oncol. 2011 May;33(4):319 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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