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Journal Article
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 214 - 220
Journal Article
The Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 11/2017, Volume 54, Issue 6, pp. 749 - 753
Journal Article
Human Genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 367 - 377
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2017, Volume 92, Issue 6, pp. 624 - 631
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 03/2018, Volume 66, Issue 3, pp. 428 - 435
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 4 - 4
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report... 
Joubert syndrome and related disorders | neuroimaging; molar tooth sign | cerebellar malformation | Oral-facial-digital syndrome type VI | RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | VARADI-SYNDROME | SYNDROME-RELATED DISORDERS | HYPOTHALAMIC HAMARTOMA | FOLLOW-UP | neuroimaging | JOUBERT-SYNDROME | PSYCHOMOTOR RETARDATION | HIRSCHSPRUNG-DISEASE | molar tooth sign | OROFACIODIGITAL-SYNDROME | Abnormalities, Multiple - pathology | Kidney Diseases, Cystic - classification | Kidney Diseases, Cystic - diagnosis | Cerebellar Diseases - classification | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Infant | Male | Polydactyly - diagnosis | Cerebellum - abnormalities | Young Adult | Cerebellar Diseases - pathology | Kidney Diseases, Cystic - genetics | Adult | Female | Child | Orofaciodigital Syndromes - classification | Infant, Newborn | Neuroimaging - methods | Eye Abnormalities - diagnosis | Cerebellar Diseases - diagnosis | Eye Abnormalities - classification | Orofaciodigital Syndromes - genetics | Eye Abnormalities - genetics | Kidney Diseases, Cystic - pathology | Orofaciodigital Syndromes - pathology | Phenotype | Cerebellar Diseases - genetics | Eye Abnormalities - pathology | Abnormalities, Multiple - diagnosis | Adolescent | Retina - abnormalities | Retina - pathology | Orofaciodigital Syndromes - diagnosis | Polydactyly - pathology | Neuroimaging | Usage | Genetic aspects | Diagnosis | Research | Multiple abnormalities | Health aspects | Risk factors | Index Medicus
Journal Article