Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of pediatric genetics"
DOI: 10.1055/s-0036-1597912
Abstract: Progressive familial intrahepatic cholestasis (PFIC) is a chronic cholestasis syndrome that begins in infancy and usually progresses to cirrhosis within the first decade of life. There are three varieties of PFIC described: PFIC-1 occurs due… read more here.
Keywords: familial intrahepatic; progressive familial; intrahepatic cholestasis; pfic ... See more keywords
An Indian Child with CONDSIAS Due to a Novel Variant in ADPRHL2 Gene
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_558_22
Abstract: A male child of SouthâAsian descent, the first issue of a nonconsanguineous union, presented to us at 10.5 years age. The child was born full term, without any significant perinatal red flags. Frequent falls and… read more here.
Keywords: child condsias; years age; indian child; child ... See more keywords