New developments in Smith-Magenis syndrome (del 17p11.2)

Recent clinical, neuroimaging, sleep, and molecular cytogenetic studies have provided new insights into the mechanisms leading to the Smith-Magenis phenotype and are summarized in this review. Cross sectional studies of patients with Smith-Magenis syndrome have found evidence for central and periphe...

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Veröffentlicht in:	Current opinion in neurology 2007-04, Vol.20 (2), p.125-134
Hauptverfasser:	Gropman, Andrea L, Elsea, Sarah, Duncan, Jr, Wallace C, Smith, Ann C M
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Chromosomes, Human, Pair 17 Humans Intellectual Disability - diagnosis Intellectual Disability - genetics Intellectual Disability - physiopathology Mutation Transcription Factors - genetics
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