Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p).
Graham
W
W
Brown
S M
SM
Shah
F
F
Tonk
V S
VS
Kukolich
M K
MK
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000782:Aneuploidy; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12; D005124:Eye Abnormalities / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005654:Fundus Oculi; D006130:Growth Disorders / Q000235:genetics; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics; D012168:Retinal Pigments / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014792:Visual Acuity
D012168:Retinal Pigments