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American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2501 - 2508
Wolf–Hirschhorn syndrome is a well‐defined disorder due to 4p16.3 deletion, characterized by distinct facial features, intellectual disability, prenatal and... 
mir‐943 | Wolf–Hirschhorn syndrome | gene | CHD | NSD2 | NSD2 gene | mir-943 | DEFECT | PHENOTYPE | WOLF-HIRSCHHORN-SYNDROME | LETM1 | SEIZURES | DOWN-SYNDROME | GENETICS & HEREDITY | NKX2-5 | Wolf-Hirschhorn syndrome | CRITICAL REGION | Coronary heart disease | Seizures (Medicine) | Literature reviews | Phenotypes | Microencephaly | Growth rate | Clonal deletion | Pathogenesis | Physical growth | Mental retardation | Growth disorders | Genotypes | Seizures
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 87, Issue 2, pp. 250 - 257
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 38 - 38
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1022 - 1026
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 867 - 876
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 1007 - 1012
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2019, Volume 95, Issue 4, pp. 525 - 531
Whole exome sequencing (WES) has led to the understanding of the molecular events affecting neurodevelopment in an extremely diverse clinical context,... 
cerebellar dysgenesis | developmental and epileptic encephalopathy | growth deficiency | PACS2 | facial dysmorphism | DE-NOVO MUTATIONS | GENETICS & HEREDITY | Medicine, Experimental | Medical research | Cerebellum | Phenotypes | Missense mutation | Mutation | Epilepsy | Central nervous system
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 764 - 765
A correction has been published to this Article. The PDF and HTML have been updated accordingly. 
Journal Article
Human Mutation, ISSN 1059-7794, 07/2011, Volume 32, Issue 7, pp. 760 - 772
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 3038 - 3045
Journal Article