Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalitiesReport as inadecuate




Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities - Download this document for free, or read online. Document in PDF available to download.

Reference: Pagnamenta, AT, Howard, MF, Knight, S et al., (2016). Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities. Clinical Case Reports, 4 (10), 952-956.Citable link to this page:

 

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

Abstract: This report constitutes the first report of a cryptic exonic splice-donor site in CDK5RAP2, highlights the importance of evaluating novel splice mutations, and suggests that the phenotypic range associated with CDK5RAP2 mutations may include skin pigmentary abnormalities.

Publication status:PublishedPeer Review status:Peer reviewedVersion:Publisher's version Funder: National Institute for Health Research Oxford BiomedicalResearch Centre   Notes:Copyright © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Bibliographic Details

Publisher: Wiley

Publisher Website: http://onlinelibrary.wiley.com/

Journal: Clinical Case Reportssee more from them

Publication Website: http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2050-0904

Volume: 4

Issue: 10

Extent: 952-956

Issue Date: October 2016

pages:952-956Identifiers

Doi: https://doi.org/10.1002/ccr3.663

Uuid: uuid:da7bd0d0-6685-40ed-9caa-77d9803998f6

Urn: uri:da7bd0d0-6685-40ed-9caa-77d9803998f6

Pubs-id: pubs:654999

Issn: 2050-090 Item Description

Type: journal-article;

Language: ENG

Version: Publisher's versionKeywords: CDK5RAP2 exome exonic splice‐donor microcephaly pigmentation abnormalities

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Author: Pagnamenta, AT - Oxford, MSD, NDM, Human Genetics Wt Centre - - - Howard, MF - - - Knight, S - Oxford, MSD, NDM, Human Genetics W

Source: https://ora.ox.ac.uk/objects/uuid:da7bd0d0-6685-40ed-9caa-77d9803998f6



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