Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome [1]

American Journal of Medical Genetics

Volumn 118 A, Issue 4, 2003, Pages 388-390

  Silengo, Margherita ^a,b   Ferrero, Giovanni Battista ^b   Tornetta, Lorella ^b   Cortese, Maria Grazia ^c   Canavese, Ferdinando ^c   D'Alonzo, Gabriella ^c   Papalia, Francesco ^c  

^a UNIVERSITY OF TURIN   (Italy)

^b Dipto Sci Pediatriche dell'A   (Italy)

^c REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; BRAIN DEVELOPMENT; CASE REPORT; CELL MIGRATION; CEREBELLUM HYPOPLASIA; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; ELECTROENCEPHALOGRAM; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE; GENE ISOLATION; GENE LOCATION; GENE MUTATION; GOLDBERG SHPRINTZEN SYNDROME; HIRSCHSPRUNG DISEASE; HUMAN; INFANT; KARYOTYPE; LETTER; MENTAL RETARDATION MALFORMATION SYNDROME; NEURAL CREST CELL; NUCLEAR MAGNETIC RESONANCE IMAGING; PACHYGYRIA; PHENOTYPE; PRIORITY JOURNAL; SIP1 GENE; SOX10 GENE; ZFHX1B GENE;

CEREBELLUM; HIRSCHSPRUNG DISEASE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; SYNDROME;

EID: 0041329851     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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