Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.

Subjects

Subjects :

Abnormalities, Multiple diagnosis
Child
Female
Gene Deletion
Heart Defects, Congenital diagnosis
Heart Defects, Congenital genetics
Humans
Male
Pedigree
Phenotype
Radiography
Syndrome
Upper Extremity Deformities, Congenital diagnosis
Upper Extremity Deformities, Congenital diagnostic imaging
Abnormalities, Multiple genetics
Nuclear Proteins genetics
RNA-Binding Proteins genetics
T-Box Domain Proteins genetics
Upper Extremity Deformities, Congenital genetics

Details

Language :

English

ISSN :

1552-4825

Volume :

140A

Issue :

17

Database :

MEDLINE

Journal :

American journal of medical genetics. Part A

Publication Type :

Academic Journal

Accession number :

16892408

Full Text :

https://doi.org/10.1002/ajmg.a.31340