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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2010-10-22
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pubmed:abstractText |
Norrie disease is a rare X-linked congenital retinal vasculopathy that may be accompanied by sensorineural deafness, mental retardation, and other neurological deficits. Here we present a family in which Norrie disease co-segregated with either early-onset idiopathic pulmonary hypertension or sudden death preceded by a period of progressive dyspnea. Neither Norrie disease, nor its atypical variants described to date, have been associated with this extended clinical phenotype.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1468-6244
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
47
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
786-90
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pubmed:meshHeading |
pubmed-meshheading:20679667-Base Sequence,
pubmed-meshheading:20679667-Blindness,
pubmed-meshheading:20679667-Child,
pubmed-meshheading:20679667-Chromosome Deletion,
pubmed-meshheading:20679667-Chromosomes, Human, X,
pubmed-meshheading:20679667-DNA Mutational Analysis,
pubmed-meshheading:20679667-Eye Proteins,
pubmed-meshheading:20679667-Family Health,
pubmed-meshheading:20679667-Fatal Outcome,
pubmed-meshheading:20679667-Female,
pubmed-meshheading:20679667-Humans,
pubmed-meshheading:20679667-Hypertension, Pulmonary,
pubmed-meshheading:20679667-Infant,
pubmed-meshheading:20679667-Male,
pubmed-meshheading:20679667-Nerve Tissue Proteins,
pubmed-meshheading:20679667-Nervous System Diseases,
pubmed-meshheading:20679667-Pedigree,
pubmed-meshheading:20679667-Spasms, Infantile
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pubmed:year |
2010
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pubmed:articleTitle |
Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
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pubmed:affiliation |
MGH Neurogenetics DNA Diagnostic Laboratory, Simches Research Building 5-300, 185 Cambridge Street, Room 5238, Boston, MA 02114, USA.
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pubmed:publicationType |
Journal Article,
Case Reports
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