Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
Détails
ID Serval
serval:BIB_4835CF6B73F5
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
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
Périodique
American Journal of Medical Genetics. Part A
ISSN
1552-4825 (Print)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2006
Peer-reviewed
Oui
Volume
140A
Numéro
17
Pages
1880-1886
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Mots-clé
Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/genetics, Child, Female, Gene Deletion, Heart Defects, Congenital/diagnosis, Heart Defects, Congenital/genetics, Humans, Male, Nuclear Proteins/genetics, Pedigree, Phenotype, RNA-Binding Proteins/genetics, Syndrome, T-Box Domain Proteins/genetics, Upper Extremity Deformities, Congenital/diagnosis, Upper Extremity Deformities, Congenital/genetics
Pubmed
Web of science
Création de la notice
20/06/2015 13:05
Dernière modification de la notice
20/08/2019 14:55
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