Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations
Background/Aims: Congenital heart defects (CHD) can occur with upper limbs deformities. Holt-Oram syndrome is the main type of heart-hand syndromes, characterized by upper limb radial ray malformations, CHD and/or conduction abnormalities. Mutations of the TBX5 gene, most of which are found within t...
I tiakina i:
| Ngā kaituhi matua: | , , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Cell Physiol Biochem Press GmbH & Co KG
2015-09-01
|
| Rangatū: | Cellular Physiology and Biochemistry |
| Ngā marau: | |
| Urunga tuihono: | http://www.karger.com/Article/FullText/430232 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
|