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American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 546 - 549
Baraitser-Winter malformation syndrome (BWMS), Fryns-Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part... 
acute myeloid leukemia | gene | Baraitser–Winter malformation syndrome | craniofrontofacial syndromes | Fryns–Aftimos syndrome | ACTB | ACTG1 | ACTB gene | ACTG1 gene | Fryns-Aftimos syndrome | FRONTO-FACIAL SYNDROME | CANCER | Baraitser-Winter malformation syndrome | RETARDATION | MALFORMATIONS | COLOBOMA | COSTELLO-SYNDROME | GENETICS & HEREDITY | PTOSIS | MUTATIONS | Translocation, Genetic | Lissencephaly - diagnosis | Genetic Testing | Humans | Intellectual Disability - complications | Leukemia, Myeloid, Acute - etiology | Brain - abnormalities | Intellectual Disability - genetics | Young Adult | Facies | Electrocardiography | Leukemia, Myeloid, Acute - drug therapy | Epilepsy - genetics | Female | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Lissencephaly - complications | Treatment Outcome | Bone Marrow Examination | Epilepsy - complications | Epilepsy - diagnosis | Magnetic Resonance Imaging | Leukemia, Myeloid, Acute - diagnosis | Comparative Genomic Hybridization | Craniofacial Abnormalities - diagnosis | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Lissencephaly - genetics | Mutation | Lymphomas | Missense mutation | Winter | Myeloid leukemia | Leukemia | Chromosome 7 | Lymphatic leukemia | Acute myeloid leukemia | Lymphoma | Mental retardation | Cancer | Index Medicus
Journal Article
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 06/2017, Volume 6, Issue 2, pp. 107 - 110
Abstract An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal... 
Case Report | ACTG1 gene mutations | Baraitser–Winter syndrome type 2 | de novo
Journal Article
Journal Article