Gene: [01q/HRPT2] hyperparathyroidism 2 (with jaw tumor);

COM

Teh-1996 reported 2 families with HPT-JT syndrome in which adult renal hamartomas or cystic kidney disease were prominent associated features, possibly representing a new phenotypic variant of the HPT-JT syndrome."

REF

LOC,LIN,PAT,FOG "Szabo J &: AJHG, 56, 944-950, 1995
LIN,PAT,POL "Teh BT &: J Clin Endocrinol Metab, 81, 4204-4211, 1996

KEY

horm

CLA

unknown, basic

LOC

01 q21-31

MIM

MIM: 145001

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