[Juvenile nephronophthisis with tapetoretinal degeneration, skeletal changes and special phenotypic traits].
Castro-Gago
M
M
Departamento de Pediatría, Hospital General de Galicia, Santiago de Compostela.
Meseguer Yebra
P
P
Fernández-Seara
M J
MJ
Alvarez Moreno
A
A
Gil Calvo
M
M
Rodríguez-Nuñez
A
A
Pavón Belinchón
P
P
D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D003131:Combined Modality Therapy; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007679:Kidney Medulla / Q000473:pathology*; D008297:Male; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D013577:Syndrome