A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of human genetics 2017-11, Vol.62 (11), p.1005-1006
Hauptverfasser:	Trinh, Joanne, Hüning, Irina, Budler, Nadja, Hingst, Volker, Lohmann, Katja, Gillessen-Kaesbach, Gabriele
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age Amino Acid Sequence Body Dysmorphic Disorders - complications Body Dysmorphic Disorders - genetics Body Dysmorphic Disorders - pathology Casein Kinase II - genetics Child Congenital diseases Female Genetic Predisposition to Disease Genetics Genomics Humans Kinases Male Microcephaly Mutation Neurodevelopmental disorders Neurodevelopmental Disorders - complications Neurodevelopmental Disorders - genetics Neurodevelopmental Disorders - pathology Patients Pedigree Prognosis Proteins Sequence Homology
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