[Killian-Teschler-Nicola syndrome (Pallister-Killian syndrome, mosaic tetrasomy 12p)].
Pankau
R
R
Kinderklinik, Universität Kiel.
Diebold
U
U
Jenderny
J
J
Kautza
M
M
Dörner
K
K
D000015:Abnormalities, Multiple / Q000235:genetics; D002881:Chromosomes, Human, Pair 12; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013036:Spasms, Infantile / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
Killian-Teschler-Nicola-Syndrom (Pallister-Killian-Syndrom, Mosaiktetrasomie 12p).