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A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.
- Source :
-
Clinical genetics [Clin Genet] 2017 Nov; Vol. 92 (5), pp. 554-555. Date of Electronic Publication: 2017 Aug 03. - Publication Year :
- 2017
-
Abstract
- A novel causative variant (c. 464T>C, p.Leu155Pro) in the heterogeneous nuclear ribonucleoprotein K (HNRNPK) gene.<br /> (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Subjects :
- Amino Acid Sequence
Base Sequence
Child, Preschool
Heterogeneous-Nuclear Ribonucleoprotein K chemistry
Humans
Male
Abnormalities, Multiple genetics
Face abnormalities
Hematologic Diseases genetics
Heterogeneous-Nuclear Ribonucleoprotein K genetics
Mutation, Missense genetics
Vestibular Diseases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 92
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Report
- Accession number :
- 28771707
- Full Text :
- https://doi.org/10.1111/cge.13023