Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease [0.03%]
临床观察：Ryanodine受体-1相关性家族显性遗传病中第二个突变纯合子患者的临床表现
Tomer Avnon,Ran Svirsky,Avi Orr-Urtreger et al.
Tomer Avnon et al.
Mutations in the ryanodine receptor-1 ( RYR1 ) may cause disorders inherited in an autosomal dominant/recessive fashion. Sequencing of RYR1 in an infant of Ashkenazi Jewish descent with severe hypotonia, dislocation of hip, torticollis and ...
Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature [0.03%]
COL11A2基因新致病突变导致的常染色体隐性遗传型耳硬化症合并骨发育不良综合征病例报告及文献复习
Pavalan Selvam,Shekhar Singh,Angita Jain et al.
Pavalan Selvam et al.
Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type X...
Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome) [0.03%]
短指智力障碍综合征（2q37缺失症候群）并发焦征性肾乳头炎的病例报告
Esra Nagehan Akyol Onder,Mine Ozkol,Nalan Nese et al.
Esra Nagehan Akyol Onder et al.
Xanthogranulomatous pyelonephritis (XGP) is characterized by destruction of the renal parenchyma and granulomatous inflammation with lipid-laden foamy macrophages as well as inflammatory infiltration and intensive renal fibrosis. It general...
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature [0.03%]
SLC29A3基因突变导致H综合征的埃及患者病例报告及文献复习
Hala T El-Bassyouni,Manal M Thomas,Angie M S Tosson
Hala T El-Bassyouni
Histiocytosis-lymphadenopathy plus syndrome (H syndrome) is caused by mutations in the SLC29A3 gene that result in histiocytic infiltration of numerous organs. Patients suffering from this disorder can be easily mistaken for similar conditi...
Kumarie Latchman,Margarita Nieto-Moreno,Roberto Lopez Alberola
Kumarie Latchman
Spastic diplegia, a muscle hypertonia motor syndrome, can occur in conjunction with the characteristic abnormal movement features of Angelman syndrome (AS), a neurodevelopmental disorder with primary features of ataxic gait, happy demeanor,...
Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype [0.03%]
肾-肝-胰发育不良：一种罕见的纤毛病，具有新颖的NPHP3基因型
Yeliz Cagan Appak,Masallah Baran,Burcu Ozturk Hismi et al.
Yeliz Cagan Appak et al.
Renal-hepatic-pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3 , which encode nephrocytin, an important component of the ciliary protein complex. ...
Hypocalcemia following Neridronate Administration in Pediatric Patients with Osteogenesis Imperfecta: A Prospective Observational Study [0.03%]
尼利德ronate治疗儿童成骨不全症后低钙血症的前瞻性观察研究
Evelina Maines,Elisa Tadiotto,Grazia Morandi et al.
Evelina Maines et al.
The use of intravenous bisphosphonates has been linked to hypocalcemia both in children and adults with osteogenesis imperfecta (OI). The aims of this study were: (1) to investigate the incidence of hypocalcemia in the first 48 hours (T48) ...
Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis [0.03%]
三级医疗中心溶酶体贮积症的光谱：病例记录回顾性分析
Ankur Singh,Rajniti Prasad,Om Prakash Mishra
Ankur Singh
Lysosomal storage disorders (LSDs) are relatively common slow progressive inborn error of metabolism encountered by clinicians. This work intends to highlight the more common LSDs, their clinical presentation, outcome, and mutation (whereve...
Maria Kostara,Vasiliki Chondrou,Argyro Sgourou et al.
Maria Kostara et al.
Food allergy (FA) is a growing health problem that affects ∼8% of the children worldwide. Although the prevalence of FA is increasing, the underlying genetic mechanisms responsible for the onset of this immune disorder are not yet clarifie...
Polymorphism in MTHFR (at SNPs 677 and 1298) in Paternal Sperm DNA and Risk of Retinoblastoma in their Children [0.03%]
父亲精子中MTHFR（SNP 677和1298）多态性和其子女视网膜母细胞瘤发病风险的相关性研究
Won Sriwijitalai,Viroj Wiwanitkit
Won Sriwijitalai