Kidney malformations and Hirschsprung’s disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene
Sign Up to like & getrecommendations! Published in 2021 at "Endocrine"
DOI: 10.1007/s12020-021-02686-1
Abstract: This investigation aimed at characterizing penetrance and interrelation of the loss-of-function phenotypes, Hirschsprung’s disease and kidney malformations, in carriers of exon 10 REarranged during Transfection (RET) mutations. Comparative analysis of penetrance of and interdependencies between… read more here.
Keywords: mutations exon; hirschsprung disease; disease; kidney malformations ... See more keywords
P180 The impact of genetic factors in kidney malformations in children
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2017-313273.268
Abstract: The incidence of congenital malformations of kidney and urinary tract pathology child is high, it represents a public health problem. Renal and urinary pathology in children ranks 3rd after respiratory and digestive pathology. Early diagnosis… read more here.
Keywords: renal failure; p180 impact; pathology; kidney malformations ... See more keywords