Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to temtamy syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 16, 2007, Pages 1900-1905

  Li, Jiang ^a   Shivakumar, Shilpa ^a   Wakahiro, Mari ^a   Mukherjee, Pratik ^a   Barkovich, A James ^a   Slavotinek, Anne ^a   Sherr, Elliott H ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Agenesis of the corpus callosum (ACC); Homozygosity mapping; MRI; Optic coloboma; Temtamy syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ASXL2 GENE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN MALFORMATION; CASE REPORT; CLINICAL FEATURE; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; FEMALE; GENE; GENE LOCUS; GENE MAPPING; HOMOZYGOSITY; HUMAN; INCIDENCE; INTRACTABLE EPILEPSY; MALE; PRIORITY JOURNAL; SKELETON MALFORMATION; TEMTAMY SYNDROME; VAX1 GENE; ZNF462 GENE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BONE AND BONES; BRAIN; CHROMOSOME DISORDERS; COLOBOMA; CORPUS CALLOSUM; CRANIOFACIAL ABNORMALITIES; EYE ABNORMALITIES; FEMALE; GENES, RECESSIVE; HUMANS; MALE; NUCLEIC ACID HYBRIDIZATION; SEIZURES; SYNDROME;

EID: 34547639390     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31855     Document Type: Article

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