Pediatric diagnosis not made until adulthood: A case of Wolf-Hirschhorn syndrome

Gene

Volumn 512, Issue 2, 2013, Pages 532-535

  Coppola, Antonietta ^a,b   Chinthapalli, Krishna ^a,b   Hammond, Peter ^c   Sander, Josemir W ^a,b,d   Sisodiya, Sanjay M ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b EPILEPSY SOCIETY   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d STICHTING EPILEPSIE INSTELLINGEN NEDERLAND SEIN   (Netherlands)

Author keywords

Array CGH; Epilepsy; Stereophotogrammetry; Wolf Hirschhorn

Indexed keywords

ACETAZOLAMIDE; CARBAMAZEPINE; DNA; ETIRACETAM; GABAPENTIN; LAMOTRIGINE; OXCARBAZEPINE; TOPIRAMATE; VALPROIC ACID;

ADULT; ANTICONVULSANT THERAPY; ARTICLE; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM; DNA METHYLATION; ELECTROENCEPHALOGRAM; EPILEPTIC STATE; FACE DYSMORPHIA; FEMALE; FEVER; FOOT MALFORMATION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HAND MALFORMATION; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MICROCEPHALY; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PREECLAMPSIA; PRIORITY JOURNAL; SEIZURE; STEREOPHOTOGRAMMETRY; WOLF HIRSCHHORN SYNDROME;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; HUMANS; INFANT, NEWBORN; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; WOLF-HIRSCHHORN SYNDROME;

EID: 84870377283     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.108     Document Type: Article

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