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rdf:type |
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lifeskim:mentions |
|
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pubmed:issue |
1
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pubmed:dateCreated |
1999-6-28
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pubmed:abstractText |
We report on a sib pair who manifest a pattern of anomalies which appears to be unique and for which we are unable to provide a cytogenetic or molecular genetic explanation. While a number of their physical features are distinct, their overall appearance and pattern of neurological impairment suggest they suffer from the same genetic disorder.
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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:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0962-8827
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
15-8
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:10327246-Abnormalities, Multiple,
pubmed-meshheading:10327246-Developmental Disabilities,
pubmed-meshheading:10327246-Electroencephalography,
pubmed-meshheading:10327246-Epilepsy,
pubmed-meshheading:10327246-Humans,
pubmed-meshheading:10327246-Hydronephrosis,
pubmed-meshheading:10327246-Infant, Newborn,
pubmed-meshheading:10327246-Male,
pubmed-meshheading:10327246-Microcephaly,
pubmed-meshheading:10327246-Nuclear Family,
pubmed-meshheading:10327246-Tetralogy of Fallot
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pubmed:year |
1999
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|
pubmed:articleTitle |
Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis.
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pubmed:affiliation |
Department of Human Genetics, Newcastle upon Tyne, UK. mdakh@cc.newcastle.edu.au
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pubmed:publicationType |
Journal Article,
Case Reports
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