Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

doi:10.1038/ejhg.2014.51

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Article

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

European journal of human genetics : EJHG - 1 Jan 2015

Peddibhotla Sirisha, Nagamani Sandesh C S, Erez Ayelet, Hunter Jill V, Holder J Lloyd, Carlin Mary E, Bader Patricia I, Perras Helene M F, 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

Abstract excerpt

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...

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Identifiers

PMID: 24736736
DOI: 10.1038/ejhg.2014.51
PMCID: PMC4266737

Genes

DLL1
ERMARD
PHF10
THBS2

Provenance

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