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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
Epilepsy & Behavior Case Reports, ISSN 2213-3232, 2017, Volume 7, Issue C, pp. 58 - 60
Highlights • Baraitser–Winter cerebrofrontofacial syndrome (BWMS) is caused by actin gene mutations. • Key features of BWMS are ptosis, hypertelorism, iris... 
Neurology | Generalized epilepsy | Baraitser–Winter cerebrofrontofacial syndrome | Dysmorphology | Video EEG
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 01/2018, Volume 61, Issue 1, pp. 21 - 23
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
Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 01/2016, Volume 17, Issue 1, pp. 119 - 123
We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had... 
Ptosis | Baraitser–Winter syndrome | Retinal hypoplasia | Hypoplastic scrotum | Choroid coloboma | Mental retardation | Baraitser-Winter syndrome | Physiological aspects | Genetic disorders
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
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
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
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
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