Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 892-897

  Conti, Valerio ^a   Marini, Carla ^a   Gana, Simone ^a   Sudi, Jyotsna ^b   Dobyns, William B ^c   Guerrini, Renzo ^a,d  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF CHICAGO   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

ARX novel mutation; Corpus callosum agenesis; Infantile spasms; Severe mental retardation; Spastic dyskinetic quadriparesis

Indexed keywords

ANDROGEN RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ARX GENE; CASE REPORT; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; DISEASE SEVERITY; DNA METHYLATION; EPILEPSY; GENE; HETEROZYGOSITY; HUMAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; QUADRIPLEGIA; X CHROMOSOME INACTIVATION;

ACROCALLOSAL SYNDROME; AMINO ACID SEQUENCE; EPILEPSY; HOMEODOMAIN PROTEINS; HUMANS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; QUADRIPLEGIA; SEQUENCE ALIGNMENT; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 79953331612     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33923     Document Type: Article

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