相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity
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Clinical and molecular characterization of Italian patients affected by Cohen syndrome
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Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
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A Velayos-Baeza et al.
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Delineation of Cohen syndrome following a large-scale genotype-phenotype screen
J Kolehmainen et al.
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Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome
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Cohen syndrome in the Ohio Amish
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Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication
F Ariani et al.
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Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
J Kolehmainen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
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NUCLEIC ACIDS RESEARCH (2002)
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