Filippi syndrome: Further clinical characterization

American Journal of Medical Genetics, Part A

Volumn 146, Issue 14, 2008, Pages 1848-1852

  Battaglia, Agatino ^a   Filippi, Tiziana ^a   Pusceddu, Silvia ^b   Williams, Charles A ^c  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b AOU Sassari   (Italy)

^c UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

Developmental delay mental retardation; Epilepsy; Filippi syndrome; Human malformation; Language impairment; Syndactyly

Indexed keywords

ANTICONVULSIVE AGENT;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CLONIC SEIZURE; CONGENITAL HIP DISLOCATION; DIAGNOSTIC IMAGING; ELECTROENCEPHALOGRAM; EPILEPSY; FILIPPI SYNDROME; FOLLOW UP; GENE; GJA1 GENE; GROWTH RETARDATION; HUMAN; IMAGE ANALYSIS; INTRAUTERINE GROWTH RETARDATION; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MICROCEPHALY; MULTICHANNEL RECORDER; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SPEECH DISORDER; SYNDACTYLY; VALGUS KNEE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; FETAL GROWTH RETARDATION; GENES, RECESSIVE; GROWTH DISORDERS; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; PHENOTYPE; SYNDACTYLY; SYNDROME;

EID: 47349103015     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32400     Document Type: Article

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