Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
Sign Up to like & getrecommendations! Published in 2020 at "Bioscience Reports"
DOI: 10.1042/bsr20193443
Abstract: Abstract As a genetically heterogeneous ocular dystrophy, gene mutations with autosomal recessive retinitis pigmentosa (arRP) in patients have not been well described. We aimed to detect the disease-causing genes and variants in a Chinese arRP… read more here.
Keywords: novel compound; compound heterozygous; large chinese; gene ... See more keywords
Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia
Sign Up to like & getrecommendations! Published in 2021 at "BMC Ophthalmology"
DOI: 10.1186/s12886-021-01905-7
Abstract: Background Pathogenic variants of G-protein coupled receptor 143 (GPR143) gene often leads to ocular albinism type I (OA1) characterized by nystagmus, iris and fundus hypopigmentation, and foveal hypoplasia. In this study, we identified a novel… read more here.
Keywords: large chinese; family; foveal hypoplasia; gpr143 ... See more keywords
Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree
Sign Up to like & getrecommendations! Published in 2017 at "Hereditas"
DOI: 10.1186/s41065-017-0040-6
Abstract: Preaxial polydactyly (PPD) is congenital hand malformation characterized by the duplication of digit. Herein, we scan the genome-wide SNPs for a large Chinese family with PPD-II/III. We employ the refined IBD algorithm to identify the… read more here.
Keywords: large chinese; identity; preaxial polydactyly; mapping candidate ... See more keywords
Comparison of diagnostic validity of two autism rating scales for suspected autism in a large Chinese sample
Sign Up to like & getrecommendations! Published in 2022 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v10.i4.1206
Abstract: BACKGROUND Autism is the most common clinical developmental disorder in children. The childhood autism rating scale (CARS) and autistic autism behavior checklist (ABC) are the most commonly used assessment scales for diagnosing autism. However, the… read more here.
Keywords: autism rating; suspected autism; cars abc; diagnostic validity ... See more keywords
Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.792183
Abstract: X-linked hypophosphataemia (XLH) is an X-linked dominant rare disease that refers to the most common hereditary hypophosphatemia (HH) caused by mutations in the phosphate-regulating endopeptidase homolog X-linked gene (PHEX; OMIM: * 300550). However, mutations that… read more here.
Keywords: linked hypophosphataemia; mutation; mutation phex; chinese family ... See more keywords