Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1662-1669

  Niederhoffer, Karen Y ^a   Peñaherrera, Maria ^a,b   Pugash, Denise ^a   Rupps, Rosemarie ^a,b,c   Arbour, Laura ^a   Tessier, Francine ^a   Choufani, Sanaa ^d   Zhao, Chunhua ^d   Manokhina, Irina ^a,b   Shuman, Cheryl ^d,e,f   Robinson, Wendy P ^a,b   Weksberg, Rosanna ^d,e,f   Boerkoel, Cornelius F ^a,b,c  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c Rare Disease Foundation   (Canada)

^d HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

Author keywords

Beckwith Wiedemann syndrome; Genetic counseling; Imprinting, genetic; Multiple hypomethylation syndrome

Indexed keywords

CHORIONIC GONADOTROPIN BETA SUBUNIT;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CDKN1C GENE; CHILD; CHROMOSOME 11P; CLINICAL FEATURE; DNA METHYLATION; DNA POLYMORPHISM; EAR DISEASE; EAR PIT; EYE DISEASE; FACIAL NEVUS FLAMMEUS; GENE; GENE MUTATION; GENE REARRANGEMENT; HEPATOMEGALY; HORMONE BLOOD LEVEL; HUMAN; HYDRAMNIOS; HYDRONEPHROSIS; HYPOGLYCEMIA; INFRAORBITAL CREASES; INTRAUTERINE GROWTH RETARDATION; MACROGLOSSIA; MALE; NAUSEA; NEPHROLITHIASIS; NEWBORN; NLRPP2 GENE; PHYSICAL DISEASE; PREECLAMPSIA; PRIORITY JOURNAL; PROMOTER REGION; PYROSEQUENCING; RECTUS ABDOMINIS MUSCLE DIASTASIS; SCHOOL CHILD; SKIN DEFECT; UMBILICAL HERNIA; VISCEROMEGALY; ZFP27 GENE;

BECKWITH-WIEDEMANN SYNDROME; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; GENOMIC IMPRINTING; HUMANS; INFANT; MALE; MICROSATELLITE REPEATS;

EID: 84862702020     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35377     Document Type: Article

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