Associated Papers
From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease.
Xu X et al.
Journal of Cellular and Molecular Medicine, 2024
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Fiordaliso SK et al.
American Journal of Human Genetics, 2019
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Hackmann K et al.
American Journal of Medical Genetics. Part A, 2016
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