Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

European Journal of Medical Genetics

Volumn 56, Issue 6, 2013, Pages 301-308

  Darmency Stamboul, Véronique ^a   Burglen, Lydie ^b   Lopez, Estelle ^c   Mejean, Nathalie ^a   Dean, John ^d   Franco, Brunella ^e   Rodriguez, Diana ^b,f   Lacombe, Didier ^g   Desguerres, Isabelle ^h   Cormier Daire, Valérie ^h,i   Doray, Bérénice ^j   Pasquier, Laurent ^k   Gonzales, Marie ^b,f   Pastore, Matthew ^l,m   Crenshaw, Melissa L ⁿ   Huet, Frédéric ^a,c   Gigot, Nadège ^a,c   Aral, Bernard ^a,c   Callier, Patrick ^a,c   Faivre, Laurence ^a,c   Attié Bitach, Tania ^b,i   Thauvin Robinet, Christel ^a,c   more..

^a DIJON UNIVERSITY HOSPITAL   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c UNIVERSITÉ DE BOURGOGNE   (France)

^d Medical Genetics   (United Kingdom)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f SORBONNE UNIVERSITÉ   (France)

^g HÔPITAL PELLEGRIN   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ UNIVERSITÉ PARIS DESCARTES   (France)

^j UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^k RENNES UNIVERSITY HOSPITAL   (France)

^l OHIO STATE UNIVERSITY   (United States)

^m NATIONWIDE CHILDREN S HOSPITAL   (United States)

ⁿ All Children's Hospital   (United States)

more..

Author keywords

Cerebellar malformation; Joubert syndrome and related disorders; Molar tooth sign; OFD VI syndrome; OFD1; Oral facial digital syndrome

Indexed keywords

APNEA; ARTICLE; ATAXIA; BRAIN VENTRICLE DILATATION; CHILD; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; COGNITIVE DEFECT; COLOBOMA; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; EPILEPSY; FACE DYSMORPHIA; FEMALE; FINGER MALFORMATION; FOOT MALFORMATION; FRAMESHIFT MUTATION; HAMARTOMA; HEAD AND NECK MALFORMATION; HEARING IMPAIRMENT; HUMAN; HYPERPNEA; MENTAL DEFICIENCY; MICROGYRIA; MOUTH MALFORMATION; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; ORAL FACIAL DIGITAL SYNDROME TYPE 6; POLYDACTYLY; PRESCHOOL CHILD; PTOSIS; REFRACTION ERROR; SCHIZENCEPHALY; SCHOOL CHILD; SEQUENCE ANALYSIS; SPEECH DISORDER;

BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION; NEUROIMAGING; OROFACIODIGITAL SYNDROMES; PROTEINS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84878478697     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.03.004     Document Type: Article

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