id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_xj7pdd6fkbcdbbia6i7dkleoby	Lina Basel-Vanagaite	Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease	2006	4	.pdf	application/pdf	2581	221	62	Hirschsprung disease (HSCR) is characterised by intestinal obstruction resulting from an absence of The mutations in the major gene, RET, associated with isolated HSCR, splicing mutation, IVS6 þ 5G�4A, in the homozygous state in all the females with severe forms of HSCR is of low-penetrance for short-segment HSCR disease, the homozygous state is fully penetrant for total allele (Mennonite), our findings support the hypothesis that the penetrance of RET gene mutations for the HSCR phenotype depends on: (i) the nature of the mutation, (ii) the allele dosage and (iii) modifier-loci. RET gene mutations causing HSCR are extremely rare. Although the IVS6 þ 5G�4A mutation in heterozygous state is of low penetrance for S-HSCR disease (less Table 2 Reported patients with homozygous RET mutations and their heterozygous siblings segment familial Hirschsprung's disease: variable clinical expression at the RET locus. Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease	./cache/work_xj7pdd6fkbcdbbia6i7dkleoby.pdf	./txt/work_xj7pdd6fkbcdbbia6i7dkleoby.txt