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Journal Article
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
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
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
Clinical Dysmorphology, ISSN 0962-8827, 1996, Volume 5, Issue 4, pp. 295 - 301
A variable degree of facial and oral clefting segregating with the characteristic facies, wide set prominent eyes, a broad nasal tip, and protruding external... 
fronto-nasal dysplasia | cleft lip/palate | fronto-facial-nasal dysplasia | autosomal dominant | GENETICS & HEREDITY | Eye Abnormalities - pathology | Cleft Lip - pathology | Pedigree | Cleft Palate - pathology | Humans | Facies | Female | Infant, Newborn | Index Medicus
Journal Article
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