Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome

Molecular Medicine Reports

Volumn 1, Issue 1, 2008, Pages 33-39

  Morleo, Manuela ^a   Iaconis, Daniela ^a   Chitayat, David ^b,c   Peluso, Ivana ^a   Marzella, Rosalia ^d   Renieri, Alessandra ^e   Mari, Francesca ^e   Franco, Brunella ^a,f  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

^d UNIVERSITY OF BARI   (Italy)

^e UNIVERSITY OF SIENA   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

IQSEC2; ISSX; RTT; X chromosome; X linked disorders

Indexed keywords

GUANOSINE TRIPHOSPHATASE; IQ MOTIF AND SEC7 DOMAIN 2; NERVE PROTEIN; RAS PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOME; AUTOSOME ABERRATION; CASE REPORT; CAST APPLICATION; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; DEVELOPMENTAL STAGE; ELECTROENCEPHALOGRAPHY; FEMALE; GENE MAPPING; HIP DISLOCATION; HUMAN; HYPOTONIC BLADDER; HYPSARRHYTHMIA; INFANTILE SPASM; KARYOTYPING; MENTAL DEFICIENCY; MOUSE; MYOCLONUS SEIZURE; NERVOUS SYSTEM; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PES EQUINUS; PHENOTYPE; PROTEIN EXPRESSION; SEQUENCE HOMOLOGY; SIGNAL TRANSDUCTION; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

MURINAE;

EID: 69249146236     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: None     Document Type: Article

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