Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1511-1515

  Giordano, L ^a   Vignoli, A ^b   Pinelli, L ^c   Brancati, F ^d,e   Accorsi, P ^a   Faravelli, F ^f   Gasparotti, R ^c   Granata, T ^g   Giaccone, G ^g   Inverardi, F ^g   Frassoni, C ^g   Dallapiccola, B ^d,h   Valente, E M ^d,i   Spreafico, R ^g  

^a Spedali Civili di Brescia   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c CSS Mendel Institute ^*  (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e UNIVERSITY OF CHIETI   (Italy)

^f GALLIERA HOSPITAL   (Italy)

^g DEPARTMENT OF NEUROSURGERY   (Italy)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁱ UNIVERSITY OF MESSINA   (Italy)

Author keywords

Epilepsy; Joubert syndrome; Molar tooth sign; Polymicrogyria neuropathology

Indexed keywords

GENOMIC DNA; MICROTUBULE ASSOCIATED PROTEIN 2; VIGABATRIN;

APNEA; ARTICLE; CASE REPORT; CLONIC SEIZURE; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DNA DETERMINATION; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; EYE MOVEMENT DISORDER; FETUS; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HYPERTELORISM; IMMUNOCYTOCHEMISTRY; JOUBERT SYNDROME; MACROCEPHALY; MACROGLOSSIA; MALE; MICROGYRIA; MOUTH MALFORMATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; NEWBORN; NOSE MALFORMATION; PRIORITY JOURNAL; PYRAMIDAL NERVE CELL;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL DISEASES; HUMANS; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; PREGNANCY; SIBLINGS; SYNDROME;

EID: 67649870489     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32936     Document Type: Article

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