Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome.
Détails
ID Serval
serval:BIB_6DBE546CD6CE
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome.
Périodique
American Journal of Medical Genetics
ISSN
0148-7299 (Print)
ISSN-L
0148-7299
Statut éditorial
Publié
Date de publication
2000
Volume
95
Numéro
5
Pages
510-512
Langue
anglais
Notes
Publication types: Case Reports ; Letter
Publication Status: ppublish
Publication Status: ppublish
Mots-clé
Adrenocortical Adenoma/pathology, Adult, Beckwith-Wiedemann Syndrome/diagnosis, Beckwith-Wiedemann Syndrome/genetics, Child, Preschool, Chromosome Banding, Chromosomes, Human, Pair 11/genetics, Chromosomes, Human, Pair 12/genetics, Chromosomes, Human, Pair 2/genetics, Chromosomes, Human, Pair 6/genetics, Female, Gene Rearrangement/genetics, Haplotypes, Humans, Insulin-Like Growth Factor I/genetics, Insulin-Like Growth Factor II/genetics, Microsatellite Repeats, Pedigree, Postoperative Complications, Translocation, Genetic, Trisomy/genetics
Pubmed
Web of science
Création de la notice
20/03/2008 10:34
Dernière modification de la notice
20/08/2019 15:27
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