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West Ashley Library
9 a.m. - 4 p.m.
Phone: (843) 766-6635
Main Library
9 a.m. - 6 p.m.
Phone: (843) 805-6930
Folly Beach Library
Closed for renovations
Phone: (843) 588-2001
John L. Dart Library
9 a.m. - 6 p.m.
Phone: (843) 722-7550
St. Paul's/Hollywood Library
9 a.m. - 5 p.m.
Phone: (843) 889-3300
Mt. Pleasant Library
9 a.m. – 6 p.m.
Phone: (843) 849-6161
Dorchester Road Library
9 a.m. - 6 p.m.
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Edgar Allan Poe/Sullivan's Island Library
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John's Island Library
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Edisto Library
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Wando Mount Pleasant Library
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Otranto Road Library
9 a.m. - 6 p.m.
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9 a.m. - 6 p.m.
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Phone: (843) 805-6892
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9 a.m. - 6 p.m.
Phone: (843) 884-9741
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
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- Author(s): Peddibhotla, Sirisha; Nagamani, Sandesh CS; Erez, Ayelet; Hunter, Jill V; Holder Jr, J Lloyd; Carlin, Mary E; Bader, Patricia I; Perras, Helene MF; Allanson, Judith E; Newman, Leslie; Simpson, Gayle; Immken, LaDonna; Powell, Erin; Mohanty, Aaron; Kang, Sung-Hae L; Stankiewicz, Pawel; Bacino, Carlos A; Bi, Weimin; Patel, Ankita; Cheung, Sau W
- Source:
European Journal of Human Genetics. Jan2015, Vol. 23 Issue 1, p54-60. 7p. - Source:
- Additional Information
- Subject Terms:
- Abstract: Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development of brain and delineation of a critical deletion region for structural brain abnormalities may lead to a better genotype-phenotype correlation. We conducted a detailed clinical and molecular characterization of seven unrelated patients with deletions involving chromosome 6q27. All patients had structural brain abnormalities. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. The smallest region of overlap spans 1.7 Mb and contains DLL1, THBS2, PHF10, and C6orf70 (ERMARD) that are plausible candidates for the causation of structural brain abnormalities. Our study reiterates the importance of 6q27 region in normal development of brain and helps identify putative genes in causation of structural brain anomalies. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of European Journal of Human Genetics is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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