JBTSJoubert Syndrome
JBTSJacksonville Baptist Theological Seminary (Florida)
References in periodicals archive ?
115) Retinitis pigmentosa and cerebellar defects are attributed to NPHP6 mutations that also can cause JBTS type 5.
For example, NPHP6 (CEP290) mutations, in addition to juvenile nephronophthisis, usually trigger both JBTS and Meckel-Gruber syndrome.
1 nase 8 NPHP 2 INVS Inversin 9q31 118 kDa Additional Autosomal Recessive Syndromes Associated With Nephronophthisis JBTS 1 JBTS1 Unknown 9q34.