Somatic mosaicism and variable expression of Townes-Brocks syndrome.
Devriendt
Koen
K
Fryns
Jean-Pierre
JP
Lemmens
Francis
F
Kohlhase
Jürgen
J
Liebers
Manuela
M
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001006:Anus, Imperforate / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005124:Eye Abnormalities / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities