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Medicine, ISSN 0025-7974, 12/2018, Volume 97, Issue 49, pp. e13444 - e13444
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
Developmental Biology, ISSN 0012-1606, 03/2014, Volume 387, Issue 1, pp. 28 - 36
Pitx2 is the last effector of the left–right (LR) cascade known to date and plays a crucial role in the patterning of LR asymmetry. In embryos, the expression... 
Xenopus | OFCD syndrome | Left–right patterning | Notch signaling | Pitx2 | Left-right patterning | DEVELOPMENTAL BIOLOGY | LEFT-RIGHT ASYMMETRY | WRPW MOTIF | CONGENITAL CATARACTS | LENZ MICROPHTHALMIA SYNDROMES | TARGET GENES | CRANIOFACIAL DEVELOPMENT | TOOTH MORPHOGENESIS | HOMEOBOX GENE PITX2 | BCL-6 COREPRESSOR | XENOPUS EMBRYO | Transcriptional Activation - genetics | Heterotaxy Syndrome - genetics | Xenopus Proteins - genetics | Microphthalmos - genetics | Receptors, Notch - metabolism | Heart - embryology | Homeodomain Proteins - metabolism | Cataract - pathology | Molecular Sequence Data | Receptors, Notch - genetics | Microphthalmos - pathology | DNA-Binding Proteins - metabolism | Heart Defects, Congenital - genetics | Forkhead Transcription Factors - metabolism | Gene Expression Regulation, Developmental | Base Sequence | Heart Septal Defects - pathology | Xenopus laevis - genetics | Binding Sites | Heart Septal Defects - genetics | Repressor Proteins - metabolism | Xenopus laevis - embryology | Heart - growth & development | Repressor Proteins - genetics | Signal Transduction - genetics | Transcription Factors - metabolism | p300-CBP Transcription Factors - metabolism | Animals | Cataract - congenital | Xenopus laevis - metabolism | Protein Binding | Cataract - genetics | Xenopus Proteins - metabolism | Enhancer Elements, Genetic - genetics | Mesoderm - metabolism | Body Patterning - genetics | Smad Proteins - metabolism | Histone Deacetylase 1 - metabolism | Histones | Genetic transcription | Amphibians | Genes | Index Medicus | left-right patterning
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
American Journal of Orthodontics and Dentofacial Orthopedics, ISSN 0889-5406, 2007, Volume 131, Issue 1, pp. 83 - 88
Journal Article
Journal Article
International Journal of Oral & Maxillofacial Surgery, ISSN 0901-5027, 2006, Volume 35, Issue 11, pp. 1060 - 1062
Journal Article
Genetics and Molecular Research, ISSN 1676-5680, 07/2016, Volume 15, Issue 3
Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important... 
Loci | Sequencing | Genes | Congenital cataract | Sex-linked inheritance | NANCE-HORAN-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | CHINESE FAMILY | DELETION | LOWE SYNDROME | GENE | GENETICS & HEREDITY | MISSENSE MUTATION | HUNERMANN-HAPPLE SYNDROME | OCRL1 | BCOR | DENTAL OFCD SYNDROME
Journal Article