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.
van Bon
Bregje W M
BW
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Koolen
David A
DA
Pfundt
Rolph
R
van der Burgt
Ineke
I
de Leeuw
Nicole
N
de Vries
Bert B A
BB
D002675:Child, Preschool; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics*; D014188:Transposition of Great Vessels / Q000235:genetics*
C114503:INVS protein, human; D014157:Transcription Factors