Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency

American Journal of Medical Genetics, Part A

Volumn 143, Issue 23, 2007, Pages 2796-2803

  Lirussi, Frédéric ^a   Jonard, Laurence ^a   Gaston, Véronique ^a   Sanlaville, Damien ^b   Kooy, R Frank ^c   Winnepenninckx, Birgitta ^c   Maher, Eamonn R ^d   FitzPatrick, David R ^e   Gicquel, Christine ^a   Portnoï, Marie France ^b   Couderc, Rémy ^a   Vazquez, Marie Paule ^a   Bahuau, Michel ^a,f,g  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^g Nephrology Department   (France)

Author keywords

Aneuploidy; Beckwith Wiedemann syndrome; Macroglossia; Monosomy 18q23

Indexed keywords

ANAMNESIS; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHILD; CHROMOSOME 18Q; CHROMOSOME DELETION; CLINICAL EXAMINATION; CLINICAL FEATURE; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; HAPLOIDY; HUMAN; MACROGLOSSIA; MALE; PRIORITY JOURNAL;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MACROGLOSSIA; MALE; PHYSICAL CHROMOSOME MAPPING;

EID: 36848999371     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31768     Document Type: Article

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