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Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.

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Title: Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
Authors: Lemmers RJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., van den Boogaard ML; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Donlin-Smith CM; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, New York., Nations SP; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas., Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Heard P; University of Texas Health Science Center at San Antonio, Chromosome 18 Research Center, San Antonio, Texas., Bakker B; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Tapscott S; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington., Cody JD; University of Texas Health Science Center at San Antonio, Chromosome 18 Research Center, San Antonio, Texas., Tawil R; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, New York., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Source: Human mutation [Hum Mutat] 2015 Jul; Vol. 36 (7), pp. 679-83. Date of Electronic Publication: 2015 May 20.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Lemmers+RJ%22">Lemmers RJ</searchLink>; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+den+Boogaard+ML%22">van den Boogaard ML</searchLink>; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Vliet+PJ%22">van der Vliet PJ</searchLink>; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Donlin-Smith+CM%22">Donlin-Smith CM</searchLink>; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, New York.<br /><searchLink fieldCode="AU" term="%22Nations+SP%22">Nations SP</searchLink>; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas.<br /><searchLink fieldCode="AU" term="%22Ruivenkamp+CA%22">Ruivenkamp CA</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Heard+P%22">Heard P</searchLink>; University of Texas Health Science Center at San Antonio, Chromosome 18 Research Center, San Antonio, Texas.<br /><searchLink fieldCode="AU" term="%22Bakker+B%22">Bakker B</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tapscott+S%22">Tapscott S</searchLink>; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington.<br /><searchLink fieldCode="AU" term="%22Cody+JD%22">Cody JD</searchLink>; University of Texas Health Science Center at San Antonio, Chromosome 18 Research Center, San Antonio, Texas.<br /><searchLink fieldCode="AU" term="%22Tawil+R%22">Tawil R</searchLink>; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, New York.<br /><searchLink fieldCode="AU" term="%22van+der+Maarel+SM%22">van der Maarel SM</searchLink>; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2015 Jul; Vol. 36 (7), pp. 679-83. <i>Date of Electronic Publication: </i>2015 May 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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