Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient.
Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany.
Kerstin N
KN
Walter
K Lynn
KL
Greenhalgh
Ruth A
RA
Newbury-Ecob
Jürgen
J
Kohlhase
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D001003:Anal Canal / Q000002:abnormalities; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009154:Mutation; D010375:Pedigree; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014314:Trisomy
D018389:Codon, Nonsense; C104146:SALL1 protein, human; D014157:Transcription Factors