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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
by Shao, C and Lu, W and Li, J and Chen, J and Yao, Q and Fan, X and Fu, Y
Eye (Basingstoke), ISSN 0950-222X, 08/2017, Volume 31, Issue 8, pp. 1140 - 1145
Journal Article
Human Genetics, ISSN 0340-6717, 7/2014, Volume 133, Issue 7, pp. 939 - 949
Journal Article
Journal Article
Ophthalmic Plastic and Reconstructive Surgery, ISSN 0740-9303, 07/2013, Volume 29, Issue 4, pp. 243 - 248
Purpose: To report the varied presentation and management of cryptophthalmos and further categorize grades of the congenital symblepharon variant based on the... 
SURGERY | OPHTHALMOLOGY | GRAFT | Blepharoplasty - methods | Humans | Middle Aged | Eyelids - abnormalities | Child, Preschool | Eye Abnormalities - classification | Male | Eye Abnormalities - surgery | Young Adult | Adolescent | Adult | Female | Retrospective Studies | Child | Eyelids - surgery | Index Medicus
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 11/2016, Volume 57, Issue 14, pp. 6396 - 6396
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2007, Volume 143A, Issue 6, pp. 604 - 607
We describe the clinical findings in two patients with double heterozygosity, both involving Stickler syndrome. In case 1, the proposita had Albright... 
Treacher Collins syndrome | vitreous | double heterozygosity | Albright hereditary osteodystrophy