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Clinical Genetics, ISSN 0009-9163, 06/2018, Volume 93, Issue 6, pp. 1205 - 1209
Oral‐facial‐digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co‐occurrence of hamartomas and/or multiple frenula of the oral region... 
NGS | oral‐facial‐digital syndrome | INTU | CPLANE | oral-facial-digital syndrome | REGULATOR | GENETICS & HEREDITY | Multiple abnormalities | Congenital heart disease | Cerebellum | Neuroimaging | Phenotypes | Polydactyly | Teeth | Single-nucleotide polymorphism | Heredity | Neoplasia | Life Sciences | Genetics | Human genetics
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
European Journal of Medical Genetics, ISSN 1769-7212, 10/2018, Volume 61, Issue 10, pp. 585 - 595
Journal Article
Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 10/2014, Volume 15, Issue 4, pp. 399 - 403
We report the case of a 2.5 year old female, 2nd in order of birth of 1st cousin consanguineous marriage, with the typical features of Oral–Facial–Digital... 
Peudocleft lip | Oral–Facial–Digital Syndrome type VI | Varadi–Papp syndrome | Self mutilation | Molar tooth sign | Polydactyly | Varadi-papp syndrome | Oral-facial-digital syndrome type VI
Journal Article
PLOS BIOLOGY, ISSN 1545-7885, 03/2016, Volume 14, Issue 3
Cilia have a unique diffusion barrier ("gate") within their proximal region, termed transition zone (TZ), that compartmentalises signalling proteins within the... 
CAENORHABDITIS-ELEGANS | SYNDROME TYPE VI | BIOCHEMISTRY & MOLECULAR BIOLOGY | FLAGELLA | BIOLOGY | C-ELEGANS | CILIOGENESIS | JOUBERT SYNDROME | MEMBRANE-PROTEINS | MECKEL SYNDROME | INTRAFLAGELLAR TRANSPORT | PRIMARY CILIUM
Journal Article
Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 10, pp. 1142 - 1154
Journal Article
Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 07/2014, Volume 15, Issue 3, pp. 305 - 310
We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguineous parents who has many typical features of... 
Oral-facial-digital syndrome | Hirschsprung disease | Polydactyly | Syndactyly | Common atrioventricular canal | Y shaped metacarpal bone | Sacral dysgenesis
Journal Article
American Journal of Medical Genetics Part A, ISSN 0148-7299, 01/1991, Volume 41, Issue 4, pp. 548 - 556
The three midline malformation complexes, the oral-facial-digital syndrome type VI (OFDS VI) or Varadi syndrome, the hydrolethalus syndrome (HS), and the... 
hydrolethalus syndrome | oral-facial-digital syndrome
Journal Article
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1992, Volume 44, Issue 5, pp. 567 - 572
We report on a son and daughter of Ashkenazi-Jewish parents with postaxial polydactyly of the hands and feet associated with syndactyly and brachydactyly,... 
OFD | orofacial digital syndromes | Brain - diagnostic imaging | Diagnosis, Differential | Phenotype | Extremities - diagnostic imaging | Humans | Adolescent | Female | Male | Tomography, X-Ray Computed | Infant, Newborn | Orofaciodigital Syndromes - diagnosis | Orofaciodigital Syndromes - pathology | case reports | oral-facial-digital syndrome | man | Index Medicus
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS, ISSN 0148-7299, 05/1995, Volume 57, Issue 1, pp. 22 - 26
The oral-facial-digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders, Considerable clinical overlap exists within the nine described... 
POLYSYNDACTYLY | DELINEATION | RETINAL ABNORMALITIES | HYPOPITUITARISM | MIDLINE DEFECTS | GENETICS & HEREDITY | PANHYPOPITUITARISM | CONGENITAL HYPOTHALAMIC HAMARTOBLASTOMA | RECESSIVE INHERITANCE | PALLISTER-HALL SYNDROME | ORAL-FACIAL-DIGITAL SYNDROME | MIDLINE
Journal Article