Juvenile nephronophtisis, short stature, partial adontia and skeletal abnormalities--a new syndromic association.
Sikora
Przemyslaw
P
Majewski
Marek
M
Kandzierski
Grzegorz
G
Zajaczkowska
Malgorzata
M
Borzecka
Halina
H
Korolczuk
Agnieszka
A
Kozlowski
Kazimierz
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D000848:Anodontia / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005355:Fibrosis; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery / Q000628:therapy; D016030:Kidney Transplantation; D007687:Kidney Tubules, Proximal / Q000473:pathology; D010530:Peritoneal Dialysis; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D013577:Syndrome