The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

Leila YoussefianHassan VahidnezhadAndrew TouatiVahid ZiaeeAmir Hossein SaeidianSara PajouhanfarSirous ZeinaliJouni Uitto

Published in: BMC medical genetics (2018)

This information provides insights on genotype-phenotype correlations, identifies a previously unreported mutation in ANTXR2, and improves the understanding of a recurrent mutation in HFS.

Keyphrases

end stage renal disease
chronic kidney disease
genome wide
newly diagnosed
ejection fraction
prognostic factors
peritoneal dialysis
healthcare
case report
copy number