PMC6925566_01
Mutation analysis of the patient and parents
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A homozygote mutation (c.1964C>T) in LRBA was found through exome sequencing (Fig. 1). This mutation results in an immediate stop-gain at the amino acid position p.R655* (Fig. 1).
PMC6925566_02
Multiple gallstones of the patient
CEJI-44-89613-g002.jpg
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Abdominal pain improved after a cholecystectomy (Fig. 2).