Use of Mannose-Binding Lectin Gene Polymorphisms and the Serum MBL Level for the Early Detection of Neonatal Sepsis [0.03%]
利用结合素基因多态性和血清MBL水平进行新生儿败血症的早期检测
Magda Badawy,Dalia S Mosallam,Doaa Saber et al.
Magda Badawy et al.
Background Mannose-binding lectin (MBL) is a component of innate immunity and is particularly important in neonates, in whom adaptive immunity has not yet completely developed. MBL deficiency and MBL2 gene polymorphisms are associated with ...
Osteogenesis Imperfecta and Extra-/Intradural Hematomas: A Case Report and Review of the Literature [0.03%]
脆骨病并发硬膜下/硬膜内血肿的个案报道及文献复习
Fatih Yakar,Emrah Celtikci,Onur Ozgural et al.
Fatih Yakar et al.
Osteogenesis imperfecta, also named as brittle bone disease, is characterized by fragile bones and short stature caused by mutations in the collagen gene. Subdural and intraparenchymal hematomas are defined and associated with trauma, vascu...
Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis [0.03%]
由于PRKAG2基因突变导致的婴儿期肥厚型心肌病预后不良
Sudheer R Gorla,Kishore R Raja,Ashish Garg et al.
Sudheer R Gorla et al.
Hypertrophic cardiomyopathy (HCM) is the second most prevalent form of cardiomyopathy in children. The etiology of the HCM is heterogeneous, so is the age of onset of symptoms. The HCM associated with metabolic disorders and genetic syndrom...
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome [0.03%]
多中心手足骨塌陷症一家系及治疗效果分析
Jariya Upadia,Alicia Gomes,Peter Weiser et al.
Jariya Upadia et al.
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder caused by heterozygous mutations in the MAFB gene (v-maf musculoaponeurotic fibrosarcoma oncogene ortholog B). This is an autosomal dominant condition with a hi...
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm [0.03%]
采用机器学习算法筛选染色体4p16区域内先天性膈疝候选基因
Danielle A Callaway,Ian M Campbell,Samantha R Stover et al.
Danielle A Callaway et al.
Wolf-Hirschhorn syndrome (WHS) is caused by partial deletion of the short arm of chromosome 4 and is characterized by dysmorphic facies, congenital heart defects, intellectual/developmental disability, and increased risk for congenital diap...
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant [0.03%]
一名携带KRAS变异患者的Noonan和Cardiofaciocutaneous表型共存综合征特征
Fernando Rodríguez,Carla Vallejos,Víctor M Bolanos-Garcia et al.
Fernando Rodríguez et al.
We report the case of a 3-year-old girl, who is the third child of nonconsanguineous parents, with short stature, hypertrophic cardiomyopathy, and mild dysmorphic features; all suggestive of Noonan syndrome. In addition, the patient present...
A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases [0.03%]
婴儿猝死综合征的分子尸检研究系统综述
Laura Jane Heathfield,Lorna Jean Martin,Raj Ramesar
Laura Jane Heathfield
Sudden unexpected death is an upsetting event, which can remain unexplained even after post-mortem investigation. Internationally, molecular autopsies have shown to resolve up to 44% of unexplained cases; however, it is currently unclear ho...
Ranjit I Kylat
Ranjit I Kylat
Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes diagnosis difficult. In the ...
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease) [0.03%]
罕见遗传因素导致的常见宫内表现的诊断挑战：2例黏脂贮积病II型（I细胞疾病）患者的报告
Gregory Costain,Michal Inbar-Feigenberg,Maha Saleh et al.
Gregory Costain et al.
Traditional approaches to prenatal genetic diagnosis for common presentations such as short femurs or intrauterine growth restriction are imperfect, and whole-exome sequencing is an emerging option. Mucolipidosis type II (I-cell disease) is...
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1 [0.03%]
第3例ISCA1基因创始人变异p.(Glu87Lys)所致线粒体病家系报告
Anju Shukla,Parneet Kaur,Katta M Girisha
Anju Shukla
Iron-sulfur cluster assembly 1 (ISCA1) is one of the essential proteins operating in the mitochondrial iron-sulfur (Fe-S) cluster biogenesis pathway. We reported the variant c.259G > A [p.(Glu87Lys)] in homozygous state in exon 4 of the ISC...