A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. Issue 5 (3rd August 2017)

• Record Type: Journal Article
• Authors: Miyake, N.; Inaba, M.; Mizuno, S.; Shiina, M.; Imagawa, E.; Miyatake, S.; Nakashima, M.; Mizuguchi, T.; Takata, A.; Ogata, K.; Matsumoto, N.
• Is Part Of: Clinical genetics. Volume 92:Issue 5(2017)
• Page Start: 554
• Page End: 555
• Publication Date: 2017-08-03
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13023
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : A novel causative variant (c. 464T>C, p.Leu155Pro) in the heterogeneous nuclear ribonucleoprotein K ( HNRNPK ) gene.