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المؤلفون: Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR

المصدر: American journal of human genetics [Am J Hum Genet] 2013 Aug 08; Vol. 93 (2), pp. 197-210. Date of Electronic Publication: 2013 Jun 27.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Base Sequence* , Genetic Predisposition to Disease* , Sequence Deletion*, Aging, Premature/*genetics , Language Development Disorders/*genetics , Leukoencephalopathies/*genetics , Tetraspanins/*genetics, Age of Onset ; Aging, Premature/complications ; Aging, Premature/ethnology ; Aging, Premature/pathology ; Asian People ; Brain/metabolism ; Brain/pathology ; Child ; Child, Preschool ; Chromosomes, Human, Pair 2 ; Exons ; Female ; Humans ; Language Development Disorders/complications ; Language Development Disorders/ethnology ; Language Development Disorders/pathology ; Leukoencephalopathies/complications ; Leukoencephalopathies/ethnology ; Leukoencephalopathies/pathology ; Magnetic Resonance Imaging ; Male ; Molecular Sequence Data ; Pedigree ; Sequence Analysis, DNA