Article (Scientific journals)
Meningocele in a congolese female with beckwith-wiedemann phenotype.
Mbuyi-Musanzayi, Sebastien; Lubala Kasole, Toni; Lumaka Zola, Aimé et al.
2014In Case Reports in Genetics, 2014, p. 989425
Peer Reviewed verified by ORBi
 

Files


Full Text
Lumaka 11.pdf
Publisher postprint (1.98 MB)
Request a copy

All documents in ORBi are protected by a user license.

Send to



Details



Abstract :
[en] Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype.
Disciplines :
Genetics & genetic processes
Author, co-author :
Mbuyi-Musanzayi, Sebastien
Lubala Kasole, Toni
Lumaka Zola, Aimé  ;  Université de Liège - ULiège > Human Genetics
Kayembe Kitenge, Tony
Kabamba Ngombe, Leon
Kalenga Muenze, Prosper
Lukusa Tshilobo, Prosper
Tshilombo Katombe, Francois
Banza Lubaba Nkulu, Celestin
Devriendt, Koenraad
Language :
English
Title :
Meningocele in a congolese female with beckwith-wiedemann phenotype.
Publication date :
2014
Journal title :
Case Reports in Genetics
ISSN :
2090-6544
eISSN :
2090-6552
Publisher :
Hindawi Publishing Corporation, Cairo, Egypt
Volume :
2014
Pages :
989425
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 18 January 2019

Statistics


Number of views
41 (2 by ULiège)
Number of downloads
0 (0 by ULiège)

OpenCitations
 
0
OpenAlex citations
 
2

Bibliography


Similar publications



Contact ORBi