Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review

Am J Med Genet A. 2008 May 1;146A(9):1225-9. doi: 10.1002/ajmg.a.32289.

Authors

Bregje W M van Bon¹, David A Koolen, Rolph Pfundt, Ineke van der Burgt, Nicole de Leeuw, Bert B A de Vries

Affiliation

¹ Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

PMID: 18386802
DOI: 10.1002/ajmg.a.32289

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 9 / genetics*
Craniofacial Abnormalities / genetics
Female
Humans
Intellectual Disability / genetics
Phenotype
Transcription Factors / genetics*
Transposition of Great Vessels / genetics*

Substances

INVS protein, human
Transcription Factors