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European Journal of Human Genetics, ISSN 1018-4813, 2009, Volume 17, Issue 10, pp. 1325 - 1335
Journal Article
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, ISSN 2212-4403, 10/2018, Volume 126, Issue 4, pp. e220 - e227
Radiculomegaly, or root gigantism, is a rare dental abnormality with important clinical implications. It is highly specific for oculo-facio-cardio-dental... 
LENZ MICROPHTHALMIA SYNDROMES | ORTHODONTICS | DAUGHTER | ANOMALIES | DENTISTRY, ORAL SURGERY & MEDICINE | OCULOFACIOCARDIODENTAL OFCD SYNDROME | CONFIRMATION | GENERATIONS | CANINE | CONGENITAL CATARACTS | BCOR MUTATION | Medicine, Experimental | Medical research
Journal Article
Genetic Counseling, ISSN 1015-8146, 2008, Volume 19, Issue 2, pp. 177 - 182
Journal Article
Medicine, ISSN 0025-7974, 12/2018, Volume 97, Issue 49, pp. e13444 - e13444
Journal Article
Journal Article
Science China Life Sciences, ISSN 1674-7305, 1/2019, Volume 62, Issue 1, pp. 119 - 125
The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental (OFCD) syndrome and to identify the potential... 
Life Sciences | deletion mutation | oculo-facio-cardio-dental syndrome | BCOR | Life Sciences, general | clinical phenotype | LENZ MICROPHTHALMIA SYNDROMES | COREPRESSOR | BIOLOGY | OFCD | TP53 | Choroid plexus | Polymerase chain reaction | Phenotypes | Clonal deletion | Nonsense mutation | Limb malformations | Phenotyping | Frameshift mutation | Papilloma | Stop codon | Mutation | Gene deletion
Journal Article