Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12.
Schrader
Kasmintan A
KA
Department of Medical Genetics, University of British Columbia, Canada. ischrader@cw.bc.ca
Nelson
Tanya N
TN
McFadden
Deborah E
DE
Pantzar
Tapio
T
Langlois
Sylvie
S
D002896:Chromosomes, Human, Pair 6; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities*; D008099:Liver / Q000002:abnormalities*; D008297:Male; D010179:Pancreas / Q000002:abnormalities*; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*
C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface