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

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Bibliographic Details
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
Description
ISSN:1098-1004
DOI:10.1002/humu.22792