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- W2015339639 abstract "The Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation syndrome associated with a deletion of chromosome 17p11.2. Since the recognition of this disorder as a clinical entity in 1982, the phenotypic features of SMS have been well described. Unfortunately, the often subtle physical and chromosomal findings of SMS may preclude the diagnosis in some affected individuals. This article offers a comprehensive review of more than 100 SMS patients whose cases have been reported, including details of the more recently studied clinical aspects of SMS. SMS has been postulated to be a contiguous gene deletion syndrome. Currently, only a few genes have been mapped to the SMS critical region. Further research (including genotype-phenotype correlation) is needed to identify the gene or genes that, when deleted, cause this disorder. Although the molecular etiology of SMS is unknown, recent investigations have identified multiple repetitive sequences within the SMS region. As described in other human disorders, repetitive sequences may be involved in homologous recombination and cause deletion. The advances in the molecular dissection of the SMS region are described, and hypotheses regarding the molecular mechanisms of SMS are offered. Parallels are made between the SMS region and other regions in the human genome where the molecular etiologies of diseases have been elucidated. © 1996 Wiley-Liss, Inc." @default.
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- W2015339639 date "1996-01-01" @default.
- W2015339639 modified "2023-09-25" @default.
- W2015339639 title "The Smith-Magenis syndrome [del(17)p11.2]: Clinical review and molecular advances" @default.
- W2015339639 cites W1559146544 @default.
- W2015339639 cites W1599498003 @default.
- W2015339639 cites W1972126359 @default.
- W2015339639 cites W1972543680 @default.
- W2015339639 cites W1975449325 @default.
- W2015339639 cites W1975548624 @default.
- W2015339639 cites W1977744770 @default.
- W2015339639 cites W1978537030 @default.
- W2015339639 cites W1979069430 @default.
- W2015339639 cites W1980138220 @default.
- W2015339639 cites W1980352092 @default.
- W2015339639 cites W1980477780 @default.
- W2015339639 cites W1984542787 @default.
- W2015339639 cites W1986953863 @default.
- W2015339639 cites W1988077150 @default.
- W2015339639 cites W1988521526 @default.
- W2015339639 cites W1994138436 @default.
- W2015339639 cites W1995610993 @default.
- W2015339639 cites W2001193466 @default.
- W2015339639 cites W2001266010 @default.
- W2015339639 cites W2004744868 @default.
- W2015339639 cites W2004920315 @default.
- W2015339639 cites W2008815739 @default.
- W2015339639 cites W2009001183 @default.
- W2015339639 cites W2014608144 @default.
- W2015339639 cites W2014896262 @default.
- W2015339639 cites W2015197182 @default.
- W2015339639 cites W2015222390 @default.
- W2015339639 cites W2018702176 @default.
- W2015339639 cites W2019904951 @default.
- W2015339639 cites W2024958009 @default.
- W2015339639 cites W2025859952 @default.
- W2015339639 cites W2026537232 @default.
- W2015339639 cites W2026702879 @default.
- W2015339639 cites W2029860411 @default.
- W2015339639 cites W2035063462 @default.
- W2015339639 cites W2036293329 @default.
- W2015339639 cites W2039892043 @default.
- W2015339639 cites W2044178128 @default.
- W2015339639 cites W2044401823 @default.
- W2015339639 cites W2046418145 @default.
- W2015339639 cites W2049145084 @default.
- W2015339639 cites W2050058653 @default.
- W2015339639 cites W2054553279 @default.
- W2015339639 cites W2063005561 @default.
- W2015339639 cites W2071109961 @default.
- W2015339639 cites W2072924157 @default.
- W2015339639 cites W2076029111 @default.
- W2015339639 cites W2076537660 @default.
- W2015339639 cites W2079973734 @default.
- W2015339639 cites W2083280777 @default.
- W2015339639 cites W2085256863 @default.
- W2015339639 cites W2091219292 @default.
- W2015339639 cites W2092105008 @default.
- W2015339639 cites W2103256993 @default.
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- W2015339639 cites W2127976578 @default.
- W2015339639 cites W2143777808 @default.
- W2015339639 cites W2144899009 @default.
- W2015339639 cites W2163410774 @default.
- W2015339639 cites W2163815448 @default.
- W2015339639 cites W2163865184 @default.
- W2015339639 cites W2164151919 @default.
- W2015339639 cites W2166568527 @default.
- W2015339639 cites W2168044710 @default.
- W2015339639 cites W2168921424 @default.
- W2015339639 cites W2321918404 @default.
- W2015339639 cites W3111827765 @default.
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- W2015339639 cites W4237171456 @default.
- W2015339639 cites W4243787970 @default.
- W2015339639 cites W53071316 @default.
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- W2015339639 doi "https://doi.org/10.1002/(sici)1098-2779(1996)2:3<122::aid-mrdd2>3.0.co;2-u" @default.
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