A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1582
Abstract: Gabriele‐de Vries syndrome (GADEVS), also known as YY1 haploinsufficiency syndrome, is a very rare autosomal dominant neurodevelopmental disorder (NDD) due to YY1 mutation characterized by mild‐to‐profound developmental delay (DD)/intellectual disability (ID), a wide spectrum of… read more here.
Keywords: month old; vries syndrome; gabriele vries; old chinese ... See more keywords
Ectrodactyly in a Chinese patient born to a mother with neuromyelitis optica spectrum disorder.
Sign Up to like & getrecommendations! Published in 2018 at "Multiple sclerosis and related disorders"
DOI: 10.1016/j.msard.2017.11.009
Abstract: NMOSD develops primarily in women of childbearing age, and several previous studies have shown that the disorder may increase the risk of miscarriage. However, there are no reports, to our knowledge, of fetal malformation, other… read more here.
Keywords: mother neuromyelitis; disorder; born mother; ectrodactyly chinese ... See more keywords
First report of a Chinese patient carrying Hb Ty Gard: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000031902
Abstract: Rationale: More than 1300 mutations which lead to abnormal hemoglobin (Hb) have been recorded in the HbVar database. Hb Ty Gard has rarely been reported and has not been reported in China. Patient concerns and… read more here.
Keywords: report chinese; report; report first; first report ... See more keywords
CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.14788
Abstract: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X‐linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral skeletal abnormalities. CHILD syndrome is caused by mutations in NSDHL gene, which… read more here.
Keywords: child syndrome; nevus chinese; syndrome mimicking; mimicking verrucous ... See more keywords
Recognition of the HLA‐A*11:398 allele in a Chinese patient and his sister
Sign Up to like & getrecommendations! Published in 2022 at "HLA"
DOI: 10.1111/tan.14648
Abstract: HLA‐A*11:398 has one nonsynonymous nucleotide change from HLA‐A*11:01:01:01 at nucleotide 709, changing Isoleucine 213 to Valine. read more here.
Keywords: patient sister; 398 allele; allele chinese; chinese patient ... See more keywords
A20 Haploinsufficiency in a Chinese Patient With Intestinal Behcet's Disease-Like Symptoms: A Case Report
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2020.01414
Abstract: Objective: Intestinal Behcet's disease (iBD) is an autoimmune disorder diagnosed by typical intestinal ulcers and systemic Behcet's disease (BD) manifestations. Haploinsufficiency of A20 (HA20) is a recently described autoinflammatory disease with a phenotype resembling BD,… read more here.
Keywords: chinese patient; behcet disease; disease; like symptoms ... See more keywords
Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2023.1160107
Abstract: The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with TRNT1 is autosomal recessive sideroblastic anemia… read more here.
Keywords: muscle involvement; muscle; chinese patient; trnt1 ... See more keywords
A Rare Case of Hemolytic Disease of the Fetus and Newborn Caused by Anti-s Antibody in a Chinese Patient.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical laboratory"
DOI: 10.7754/clin.lab.2022.220525
Abstract: BACKGROUND Anti-s is a rare alloantibody, and the reported cases of hemolytic disease of the fetus and newborn (HDFN) caused by anti-s are limited to non-Asian populations. METHODS Here, we report the case of a… read more here.
Keywords: hemolytic disease; chinese patient; case; fetus newborn ... See more keywords