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Article

Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement.

Journal of medical genetics - 1 Aug 2002

Concannon N, Hegarty A-M, Stallings R L, Reardon W

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Share to Adolescent
Share to Chromosome Aberrations
Share to Chromosome Banding
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

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Identifiers

PMID: 12161608
DOI: 10.1136/jmg.39.8.e41
PMCID: PMC1735192

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Related research

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Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement.PMID 12161608Read ↗

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Coffin-Lowry syndrome in a patient from the Cook Islands confirmed by the presence of a unique mutation.Semantic proximity Read ↗

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A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son.Semantic proximity Read ↗

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Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation.Semantic proximity Read ↗

RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.Semantic proximity Read ↗

[Coffin-Lowry syndrome: Case report in Mexico].Semantic proximity Read ↗

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