Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities
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.
| Main Authors: | , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Wiley
2016
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| _version_ | 1797098311508819968 |
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| author | Pagnamenta, A Howard, M Knight, S Keays, D Quaghebeur, G Taylor, J Kini, U |
| author_facet | Pagnamenta, A Howard, M Knight, S Keays, D Quaghebeur, G Taylor, J Kini, U |
| author_sort | Pagnamenta, A |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T05:07:41Z |
| format | Journal article |
| id | oxford-uuid:da7bd0d0-6685-40ed-9caa-77d9803998f6 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:07:41Z |
| publishDate | 2016 |
| publisher | Wiley |
| record_format | dspace |
| spelling | oxford-uuid:da7bd0d0-6685-40ed-9caa-77d9803998f62022-03-27T09:03:35ZActivation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalitiesJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:da7bd0d0-6685-40ed-9caa-77d9803998f6EnglishSymplectic Elements at OxfordWiley2016Pagnamenta, AHoward, MKnight, SKeays, DQuaghebeur, GTaylor, JKini, UThis 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. |
| spellingShingle | Pagnamenta, A Howard, M Knight, S Keays, D Quaghebeur, G Taylor, J Kini, U Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities |
| title | Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities |
| title_full | Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities |
| title_fullStr | Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities |
| title_full_unstemmed | Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities |
| title_short | Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities |
| title_sort | activation of an exonic splice donor site in exon 30 of cdk5rap2 in a patient with severe microcephaly and pigmentary abnormalities |
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