Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
Details
Serval ID
serval:BIB_4835CF6B73F5
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
Journal
American Journal of Medical Genetics. Part A
ISSN
1552-4825 (Print)
ISSN-L
1552-4825
Publication state
Published
Issued date
2006
Peer-reviewed
Oui
Volume
140A
Number
17
Pages
1880-1886
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Keywords
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
Create date
20/06/2015 13:05
Last modification date
20/08/2019 14:55
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