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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2003-11-17
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pubmed:abstractText |
This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).
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pubmed:grant |
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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:issn |
1098-3600
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
430-4
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:14614393-Adolescent,
pubmed-meshheading:14614393-Adult,
pubmed-meshheading:14614393-Child,
pubmed-meshheading:14614393-Child, Preschool,
pubmed-meshheading:14614393-Chromosome Deletion,
pubmed-meshheading:14614393-Chromosomes, Human, Pair 17,
pubmed-meshheading:14614393-Cytogenetic Analysis,
pubmed-meshheading:14614393-Electrophoresis, Gel, Pulsed-Field,
pubmed-meshheading:14614393-Humans,
pubmed-meshheading:14614393-In Situ Hybridization, Fluorescence,
pubmed-meshheading:14614393-Infant,
pubmed-meshheading:14614393-Intellectual Disability,
pubmed-meshheading:14614393-Phenotype,
pubmed-meshheading:14614393-Proteins,
pubmed-meshheading:14614393-Sleep Disorders, Intrinsic,
pubmed-meshheading:14614393-Syndrome,
pubmed-meshheading:14614393-Transcription Factors
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pubmed:articleTitle |
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
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pubmed:affiliation |
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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