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
Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations.
Sign Up to like & getrecommendations! Published in 2025 at "Human genome variation"
DOI: 10.1038/s41439-025-00334-y
Abstract: Here we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient’s ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G>T; pathogenic; PVS1 + PM2 + PP4) and a paternally… read more here.
Keywords: characterization novel; patient identification; chinese patient; infantile hypophosphatasia ... See more keywords
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia
Sign Up to like & getrecommendations! Published in 2024 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2024.2322643
Abstract: ABSTRACT Background ATF6-associated Achromatopsia (ACHM) is a rare autosomal recessive disorder characterized by reduction of visual acuity, photophobia, nystagmus, and poor color vision. Methods Detailed ophthalmological examinations were performed in a Chinese patient with ACHM.… read more here.
Keywords: atf6 homozygous; homozygous variant; chinese patient; achromatopsia ... 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
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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
Identification of the HLA‐A*11:463 allele in a Chinese patient and his father
Sign Up to like & getrecommendations! Published in 2024 at "HLA"
DOI: 10.1111/tan.15442
Abstract: HLA‐A*11:463 has one nucleotide change from HLA‐A*11:01:01:01 at nucleotide 508 changing Lysine (146) to Glutamine. read more here.
Keywords: allele chinese; patient father; identification hla; hla 463 ... 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: A novel de novo SPI1 mutation identified in a Chinese patient with agammaglobulinemia
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2025.1716208
Abstract: Background PU.1 deficiency, also known as Autosomal Dominant Agammaglobulinemia-10 (AGM10), is a rare primary immunodeficiency caused by mutations in the SPI1 gene, leading to B cell deficiency and hypogammaglobulinemia. To date, human cases of SPI1-related… read more here.
Keywords: agammaglobulinemia; chinese patient; mutation; case ... See more keywords
Case Report: A de novo NR2F1 mutation and clinical characteristics of Bosch–Boonstra–Schaaf optic atrophy syndrome in a Chinese patient
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2025.1542548
Abstract: Purpose This study aimed to report the clinical characteristics, genetic findings, and treatment outcomes of a Chinese patient with Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) caused by a mutation in the NR2F1 gene. Method A retrospective… read more here.
Keywords: clinical characteristics; chinese patient; boonstra schaaf; mutation ... See more keywords