Deletion upstream of SALL1 producing Townes-Brocks syndrome.
Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.
Cathy A
CA
Stevens
Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.
Kristin M
KM
May
D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics*; D002648:Child; D002886:Chromosomes, Human, Pair 17; D005260:Female; D017353:Gene Deletion; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D013933:Thumb / Q000002:abnormalities*; D014157:Transcription Factors / Q000235:genetics*
C104146:SALL1 protein, human; D014157:Transcription Factors