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1A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay
المؤلفون: Irina Hüning, Katja Lohmann, Zafer Yüksel, Christine Klein, Sophie Imhoff, Nadja Baalmann, Gabriele Gillessen-Kaesbach, Arndt Rolfs, Joanne Trinh
المصدر: Journal of Human Genetics. 63:997-1001
مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Developmental Disabilities, Mutation, Missense, Chromosome Disorders, Short stature, 03 medical and health sciences, Intellectual disability, Genotype, Genetics, medicine, Humans, Missense mutation, Global developmental delay, Child, Genetics (clinical), Exome sequencing, Genes, Dominant, Histone Acetyltransferases, Massive parallel sequencing, business.industry, medicine.disease, 030104 developmental biology, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc05163871b08b35b63e1be2149b70dbTest
https://doi.org/10.1038/s10038-018-0469-0Test -
2
المؤلفون: Irina Hüning, Volker Hingst, Nadja Budler, Joanne Trinh, Gabriele Gillessen-Kaesbach, Katja Lohmann
المصدر: Journal of Human Genetics. 62:1005-1006
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Sequence Homology, Biology, 03 medical and health sciences, fluids and secretions, mental disorders, Genetics, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Casein Kinase II, Child, Peptide sequence, reproductive and urinary physiology, Genetics (clinical), De novo mutation, Body Dysmorphic Disorders, Prognosis, Pedigree, 030104 developmental biology, Sequence homology, Neurodevelopmental Disorders, Mutation, Mutation (genetic algorithm), Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f247398914048cd5e5661e50ae92b9eTest
https://doi.org/10.1038/jhg.2017.73Test