Deletion of filamin A in two female patients with periventricular nodular heterotopia

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 6, 2012, Pages 1512-1516

  Chardon, Jodi Warman ^a   Mignot, Cyril ^b   Aradhya, Swaroop ^c   Keren, Boris ^b   Afenjar, Alexandra ^b   Kaminska, Anna ^d   Beldjord, Cherif ^e   Héron, Delphine ^b   Boycott, Kym M ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c GENEDX   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e NONE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; FILAMIN A;

ADULT; CASE REPORT; CHILD; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; CLINICAL EXAMINATION; CLINICAL FEATURE; COGNITIVE DEFECT; COPY NUMBER VARIATION; DNA DETERMINATION; EHLERS DANLOS SYNDROME; ELECTROENCEPHALOGRAM; EMD GENE; FEMALE; FETUS DISTRESS; FETUS WASTAGE; FILAMIN A GENE; GENE; GENE DELETION; GENE LOCATION; GENE PROBE; GENE REARRANGEMENT; HEMIPARESIS; HETEROTOPIA; HUMAN; HYPERREFLEXIA; INTELLECTUAL IMPAIRMENT; LETTER; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIVENTRICULAR HETEROTOPIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SEGMENTAL DUPLICATION; SEIZURE; SEQUENCE ANALYSIS; SPASTICITY; THROMBOCYTOPENIA; TRAUMATIC BRAIN INJURY; X CHROMOSOME LINKED DISORDER;

ADULT; CHILD; CONTRACTILE PROTEINS; FEMALE; GENE DELETION; HUMANS; MICROFILAMENT PROTEINS; NEUROIMAGING; PERIVENTRICULAR NODULAR HETEROTOPIA;

EID: 84861222560     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35409     Document Type: Letter

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