Table 2. Relevant genetic findings in patients harbouring mutations in NR1H4.

	Family 1		Family 2
	Patient 1	Patient 2	Patient 3	Patient 4
Genetics
NRIH4 first allele	c.526C>T p.Arg176*	c.526C>T p.Arg176*	c.419_420insAAA (p.Tyr139_Asn140insLys)	c.419_420insAAA (p.Tyr139_Asn140insLys)
NRIH4 second allele	c.526C>T p.Arg176*	c.526C>T p.Arg176*	31.7 kb deletion	31.7 kb deletion
ABCB11	None found	None found	Heterozygous c.1331T>C p.V444A	Homozygous c.1331T>C p.V444A