Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia

European Journal of Medical Genetics

Volumn 56, Issue 5, 2013, Pages 270-273

  Rocas, Delphine ^a   Alix, Eudeline ^a   Michel, Jessica ^a   Cordier, Marie Pierre ^a   Labalme, Audrey ^a   Guilbert, Hélène ^a   Till, Marianne ^a   Schluth Bolard, Caroline ^a,b   de Haas, Pascale ^c   Massardier, Jérôme ^a   Portes, Vincent des ^a   Edery, Patrick ^a,b   Touraine, Renaud ^d   Guibaud, Laurent ^b   Vasiljevic, Alexandre ^a   Sanlaville, Damien ^a,b  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ LYON 1   (France)

^c Cabinet de Radiologie et d'Echographie   (France)

^d HÔPITAL NORD   (France)

Author keywords

Array CGH; Cerebellar hypoplasia; OPHN1; Purkinje cells; Rho GTPase activating protein; Syndromic X linked mental retardation

Indexed keywords

ARTICLE; AUTOPSY; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBELLUM HYPOPLASIA; CONSANGUINEOUS MARRIAGE; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE; GENE DELETION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; MACROSOMIA; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHN1 GENE; PREGNANCY TERMINATION; REAL TIME POLYMERASE CHAIN REACTION;

ADULT; CEREBELLUM; CISTERNA MAGNA; CYTOSKELETAL PROTEINS; DEVELOPMENTAL DISABILITIES; FEMALE; FETUS; GENE DELETION; GTPASE-ACTIVATING PROTEINS; HUMANS; KARYOTYPING; MENTAL RETARDATION, X-LINKED; NERVOUS SYSTEM DISEASES; NERVOUS SYSTEM MALFORMATIONS; NUCLEAR PROTEINS; PREGNANCY; PURKINJE CELLS; X CHROMOSOME INACTIVATION;

MUS;

EID: 84878642964     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.01.014     Document Type: Article

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