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Title
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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation : a case report suggesting a genotype-phenotype correlation
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Author
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Abstract
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| VPS45 mutations cause severe congenital neutropenia (SCN). We report on a girl with SCN and neurological impairment harboring a homozygous p. E238K mutation in VPS45 (vacuolar sorting protein 45). She successfully underwent hematopoietic stem cell transplantation. Our findings delineate the phenotype and indicate a possible genotype-phenotype correlation for neurological involvement. (C) 2015 Wiley Periodicals, Inc. |
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Language
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English
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Source (journal)
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American journal of medical genetics : part A. - Bognor Regis, 2003, currens
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Publication
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Bognor Regis
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2015
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ISSN
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1552-4825
[print]
1552-4833
[online]
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DOI
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10.1002/AJMG.A.37367
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Volume/pages
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167
:12
(2015)
, p. 3214-3218
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ISI
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000367668600047
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Pubmed ID
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26358756
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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