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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2000-11-8
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pubmed:abstractText |
The authors report a family in which two boys had severe neonatal encephalopathy of unknown origin. They both presented with the same condition and died of severe apnea before they were 1 year old. Their sister has a classic form of Rett syndrome.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0028-3878
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
24
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pubmed:volume |
55
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1188-93
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11071498-Adolescent,
pubmed-meshheading:11071498-Chromosomal Proteins, Non-Histone,
pubmed-meshheading:11071498-DNA-Binding Proteins,
pubmed-meshheading:11071498-Dosage Compensation, Genetic,
pubmed-meshheading:11071498-Female,
pubmed-meshheading:11071498-Humans,
pubmed-meshheading:11071498-Male,
pubmed-meshheading:11071498-Methyl-CpG-Binding Protein 2,
pubmed-meshheading:11071498-Mutation,
pubmed-meshheading:11071498-Pedigree,
pubmed-meshheading:11071498-Polymerase Chain Reaction,
pubmed-meshheading:11071498-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:11071498-Repressor Proteins,
pubmed-meshheading:11071498-Rett Syndrome,
pubmed-meshheading:11071498-X Chromosome
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pubmed:year |
2000
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pubmed:articleTitle |
Two affected boys in a Rett syndrome family: clinical and molecular findings.
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pubmed:affiliation |
INSERM U491, Faculté de Médecine La Timone, Marseille, France. laurent.villard@medecine.univ-mrs.fr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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