Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene [0.03%]
TNXB基因复合杂合突变相关的食管狭窄和皮肤病理学
Nida Mirza,Sundeep Upadhyaya,Sagar Mehta et al.
Nida Mirza et al.
The Ehlers-Danlos' syndrome (EDS) constitutes a group of connective tissue disorders that are clinically and genetically heterogeneous. Mutations in the TNXB gene have been recognized as pathogenic causing classical-like EDS due to tenascin...
Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report [0.03%]
用水杨酸环苯扎胺治疗20号环状染色体综合征一名患者的电临床疗效观察：案例报告
Stefano Parravicini,Ludovica Pasca,Martina Paola Zanaboni et al.
Stefano Parravicini et al.
Ring chromosome 20 or r(20) syndrome is a rare chromosomal disorder, mainly characterized by childhood-onset drug-resistant epilepsy with typical electroencephalographic findings, followed by mild to severe cognitive-behavioral decline. Rec...
A Brief View of The Prophet Ayyub's (Alayhi As-Salam) Disease: Was It Job's Syndrome? [0.03%]
先知艾尤ブ（愿主福安之）的疾病简述—— Job综合征吗？
Hüseyin Çaksen
Hüseyin Çaksen
Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases [0.03%]
婴儿期系统性透明变性疾病所致的假性瘫痪：6例研究
Vykuntaraju K Gowda,Sahana M Srinivas,Priya Gupta et al.
Vykuntaraju K Gowda et al.
Infantile systemic hyalinosis is a very rare fatal autosomal recessive genetic disorder with a mutation in capillary morphogenesis gene-2- CMG2 /Human anthrax toxin-2 ANTXR2 resulting in spindle cell proliferation, altered collagen metaboli...
Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature [0.03%]
FKRP墨西哥人始祖突变c.1387A>G致先天性肌营养不良患者的新发脑影像学异常：文献复习
Marivi Cervera-Gaviria,Julia Enterría-Rosales,Juan José Juárez-Vignon-Whaley et al.
Marivi Cervera-Gaviria et al.
Mutations in the FKRP gene result in phenotypes with severe forms of congenital muscular dystrophies (CMD) and limb-girdle muscular dystrophies. We present a Mexican patient with a pathogenic homozygous mutation in the FKRP gene (c.1387A > ...
Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians [0.03%]
白细胞介素-1受体拮抗剂缺乏症：儿科医生面临的诊断挑战性的新的遗传性自身炎症性疾病
Andrea Rivera-Sepulveda,Francisco Colón-Fontánez,Maricarmen López et al.
Andrea Rivera-Sepulveda et al.
Deficiency of interleukin-1 receptor antagonist is a rare autoinflammatory disease that affects infants early in life. It often presents with systemic inflammation, skin and bone involvement. We present a 5-month-old boy who was hospitalize...
The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes [0.03%]
全外显子组测序阴性的复杂神经表型患者的基因诊断中全基因组测序和RNA测序的有效性
Bianca Blake,Lauren I Brady,Nicholas A Rouse et al.
Bianca Blake et al.
Whole-genome sequencing (WGS) is being increasingly utilized for the diagnosis of neurological disease by sequencing both the exome and the remaining 98 to 99% of the genetic code. In addition to more complete coverage, WGS can detect struc...
Vykuntaraju K Gowda,Varunvenkat M Srinivasan,Kapil Jetha et al.
Vykuntaraju K Gowda et al.
Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea, and early death. This wa...
Cardiac Fibroma with Asymptomatic Ventricular Arrhythmia in an Adolescent with Gorlin's Syndrome [0.03%]
戈林综合征青少年心脏纤维瘤合并无症状室性心律失常
Dipika Menon,John N Dentel,Yamuna Sanil et al.
Dipika Menon et al.
Nevoid basal cell carcinoma syndrome (NBCCS), also referred to as Gorlin's syndrome, is an autosomal dominant inherited condition that predisposes affected individuals to various tumors such as cardiac fibromas. Though technically benign, c...
Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant [0.03%]
与RANBP2基因变异相关的常染色体显性遗传急性坏死性脑病的多变表现和较低外显率
Daniel R Carvalho,Carlos E Speck-Martins,Bernardo J A F Martins et al.
Daniel R Carvalho et al.
Acute necrotizing encephalopathy (ANE) is clinically characterized by fever, acute alteration of consciousness, seizures, and rapid progression to coma within days of onset of a viral illness occurring in healthy children without evidence o...