Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly.
van den Akker
Peter C
PC
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. p.c.van.den.akker@medgen.umcg.nl
van de Graaf
Raoul
R
Dooijes
Dennis
D
van Essen
Anthonie J
AJ
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002196:Capillaries / Q000002:abnormalities; D002675:Child, Preschool; D018389:Codon, Nonsense; D004370:Duane Retraction Syndrome / Q000150:complications / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D009030:Mosaicism; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014157:Transcription Factors / Q000235:genetics*; D014564:Urogenital Abnormalities / Q000235:genetics
D018389:Codon, Nonsense; C104146:SALL1 protein, human; D014157:Transcription Factors