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American journal of medical genetics. Part A, ISSN 1552-4825, 2016, Volume 170, Issue 12, pp. 3069 - 3082
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2013, Volume 21, Issue 5, pp. 494 - 502
Journal Article
Nature genetics, ISSN 1061-4036, 2009, Volume 41, Issue 1, pp. 95 - 100
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2012, Volume 20, Issue 4, pp. 381 - 388
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2011, Volume 19, Issue 4, pp. 416 - 421
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2015, Volume 23, Issue 7, pp. 907 - 914
Journal Article
Human Mutation, ISSN 1059-7794, 01/2018, Volume 39, Issue 1, pp. 103 - 113
Journal Article
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1013 - 1029
SATB2 ‐associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of... 
associated syndrome | genotype‐phenotype correlation | pathogenic variants | SATB2 | whole exome sequencing | SATB2-associated syndrome | genotype-phenotype correlation | GENETICS & HEREDITY | Genetic aspects | Codon | Genes | Analysis | Animal models | Phenotypes | Reviews | Nonsense mutation | Coding | Stop codon | Neurodevelopmental disorders | Genotypes | Hereditary diseases
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 6, pp. 844 - 846
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, Issue 7, pp. 823 - 831
Journal Article