Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Griseri et al	2009	Eur J Hum Genet	483-490	17(4)	Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)	19300444

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 2	Exon 18	c.2267delC	p.Pro756LeufsX95	Deletion; frameshift	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.2267delC	p.Pro756LeufsX95	Exon 18	Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia