A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia [4]

American Journal of Medical Genetics

Volumn 138 A, Issue 1, 2005, Pages 70-72

  Bhat, Shambhu S ^a   Rogers, R Curtis ^a   Holden, Kenton R ^a   Srivastava, Anand K ^a  

^a GREENWOOD GENETIC CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; PROTEIN ARX; UNCLASSIFIED DRUG;

AGYRIA; ARISTALESS RELATED HOMEOBOX GENE; CASE REPORT; CELL DIFFERENTIATION; CORPUS CALLOSUM AGENESIS; EPILEPSY; FRAMESHIFT MUTATION; GENE DELETION; GENITAL MALFORMATION; HOMEOBOX; HUMAN; HYPOPLASIA; LETTER; MALE; MENTAL DEFICIENCY; NEWBORN; NONSENSE MUTATION; PRIORITY JOURNAL; SEIZURE; TESTIS CELL; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BRAIN; CHROMOSOMES, HUMAN, X; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, X-LINKED; GENITALIA, MALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 24344444749     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30892     Document Type: Letter

References (9)

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