Oculofacial alterations in NBAS-SOPH like mutations: Case report.

CONCLUSIONS:: NBAS mutations can also cause complex disease with a broad clinical spectrum ranging from isolated recurrent acute liver failure (RALF) to a multisystemic phenotype. Due to the heterogeneity of the expressions, a multispeciality approach to this situation is recommended.
PMID: 30845840 [PubMed - as supplied by publisher]

Source: European Journal of Ophthalmology - March 7, 2019 Category: Opthalmology Authors: Nucci F, Lembo A, Farronato M, Farronato G, Nucci P, Serafino M Tags: Eur J Ophthalmol Source Type: research