TY - JOUR
T1 - Juvenile nephronophthisis associated wtih new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis
AU - Bianchi, C.
AU - Barera, G.
AU - Picciotti, M.
AU - Barbiano di Belgioioso, G.
AU - Bellini, F.
PY - 1988
Y1 - 1988
N2 - This report concerns a boy presenting renal disease with tubulointerstitial nephropathy which suggests familial juvenile nephronophthisis, hepatosplenomegaly due to congenital hepatic fibrosis, tapetoretinal degeneration, probable endocrine involvement and congenital skeletal abnormalities. The associations presented in this paper have not previously been reported.
AB - This report concerns a boy presenting renal disease with tubulointerstitial nephropathy which suggests familial juvenile nephronophthisis, hepatosplenomegaly due to congenital hepatic fibrosis, tapetoretinal degeneration, probable endocrine involvement and congenital skeletal abnormalities. The associations presented in this paper have not previously been reported.
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M3 - Article
C2 - 2745140
AN - SCOPUS:0024148519
SN - 0018-022X
VL - 43
SP - 449
EP - 455
JO - Helvetica Paediatrica Acta
JF - Helvetica Paediatrica Acta
IS - 5-6
ER -