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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
International Journal of Neuroscience, ISSN 0020-7454, 09/2018, Volume 128, Issue 9, pp. 881 - 885
Purpose: Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant genetic disorder involving multiple organ systems and primarily... 
epilepsy | ACTB mutation | cerebral malformations | Baraitser-Winter cerebrofrontofacial syndrome | BARAITSER | WINTER CEREBROFRONTOFACIAL SYNDROME | FRONTO-FACIAL SYNDROME | NEUROSCIENCES | ACTB | RETARDATION | COLOBOMA | DISEASE | PTOSIS | MUTATIONS | MOTILITY | Index Medicus
Journal Article
Journal of Pediatric Neurosciences, ISSN 1817-1745, 10/2014, Volume 9, Issue 3, pp. 257 - 259
Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene... 
poly malformations | genetic disorder | growth hormone deficiency | Baraitser Winter syndrome | Case studies | Somatotropin | CT imaging | Care and treatment | Usage | Physiological aspects | Diagnosis | Risk factors | Brain diseases | Case Report
Journal Article
Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 01/2014, Volume 15, Issue 1, pp. 95 - 97
Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects. A... 
Ptosis | Baraitser–Winter syndrome | Optic nerve coloboma | Mental retardation | Baraitser-Winter syndrome
Journal Article
Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 2010, Volume 11, Issue 2, pp. 187 - 191
An Arab child is presented herein with a phenotype that fits the rare Baraitser–Winter syndrome. Her clinical features included a unilateral iris coloboma,... 
Eye coloboma | Brain malformation | Baraitser–Winter syndrome | Multiple congenital anomalies | Kuwait | Mental retardation | Baraitser-Winter syndrome
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2016, Volume 59, Issue 10, pp. 502 - 506
Journal Article
Turkish Journal of Thoracic and Cardiovascular Surgery, ISSN 1301-5680, 2018, Volume 26, Issue 4, pp. 639 - 641
Baraitser-Winter syndrome is a very rare genetic disorder caused by cytoplasmic actin-encoding genes defects. Although most patients have similar phenotype,... 
Baraitser-Winter syndrome | Bentall procedure | Ascending aortic aneurysm | Adulthood | Baraitser-Winter sendromu | Erişkinlik | çikan aort anevrizmasi | Bentall prosedürü | SURGERY | IRIS COLOBOMA | ascending aortic aneurysm | MALFORMATIONS | MENTAL-RETARDATION | PTOSIS | HYPERTELORISM | MUTATIONS | SPECTRUM
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2017, Volume 92, Issue 1, pp. 3 - 9
Baraitser–Winter cerebrofrontofacial syndrome ( BWCFF ) ( BRWS ; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is... 
Baraitser–Winter syndrome | Baraitser–Winter cerebrofrontofacial syndrome | coloboma | ACTB | ACTG1 | pachygyria | GAMMA | Baraitser-Winter cerebrofrontofacial syndrome | MENTAL-RETARDATION | ACTIN | CELL-GROWTH | FRONTO-FACIAL SYNDROME | BETA | Baraitser-Winter syndrome | MALFORMATIONS | ARGINYLATION | GENETICS & HEREDITY | MUTATIONS | Humans | Mental Retardation, X-Linked - physiopathology | Developmental Disabilities - genetics | Craniofacial Abnormalities - physiopathology | Genetic Counseling | Obesity - genetics | Mutation, Missense - genetics | Actins - genetics | Mental Retardation, X-Linked - genetics | Hydrocephalus - physiopathology | Mental Retardation, X-Linked - diagnosis | Facies | Obesity - diagnosis | Hydrocephalus - genetics | Developmental Disabilities - diagnosis | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Developmental Disabilities - physiopathology | Hydrocephalus - diagnosis | Growth Disorders - diagnosis | Obesity - physiopathology | Abnormalities, Multiple - physiopathology | Craniofacial Abnormalities - diagnosis | Abnormalities, Multiple - diagnosis | Growth Disorders - genetics | Growth Disorders - physiopathology | Missense mutation | Lissencephaly | Congenital defects | Actin | Cortex | Mutation | Genetic counselling | Heart diseases | Coronary artery disease | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2014, Volume 22, Issue 2, pp. 179 - 183
ACTB and ACTG1 mutations have recently been reported to cause Baraitser-Winter syndrome (BRWS) - a rare condition characterized by ptosis, colobomata, neuronal... 
cytoplasmic actins | BaraitserWinter syndrome | </