Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis [0.03%]
双生子小头畸形病新型MCPH1基因变异与桥本甲状腺炎同时同态表现至儿童期病例报告
Piero Pavone,Xena Giada Pappalardo,Andrea Domenico Praticò et al.
Piero Pavone et al.
This study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoi...
Hasret A Civan,Serhat Seyhan
Hasret A Civan
We aimed to evaluate type, frequency, and variety of pathogenic variants according to clinical and demographic features of children diagnosed with cystic fibrosis (CF). Twenty-five CF patients were evaluated retrospectively. Patients' demog...
Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma [0.03%]
埃及难治性哮喘儿童中最常见CFTR基因突变的筛查研究
Mohammad Al-Haggar,Engy Osman,Abdel-Rahman Eid et al.
Mohammad Al-Haggar et al.
Cystic fibrosis (CF) is panethnic autosomal recessive disease that affects the exocrine glands of pancreas, lungs, and intestine. It is often misdiagnosed in developing countries as difficult-to-treat asthma. We enrolled 150 Egyptian famili...
Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment [0.03%]
弗里曼-伯安综合征患者的康复问题的识别及评估和管理方法的新进展：全球治疗原则
Mikaela I Poling,Craig R Dufresne,Rodger J McCormick
Mikaela I Poling
Freeman-Burian syndrome, formerly Freeman-Sheldon syndrome, is a rare congenital complex myopathic craniofacial syndrome that frequently involves extremity joint deformities, abnormal spinal curvatures, and chest wall mechanical problems th...
Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review [0.03%]
微阵列比较基因组杂交、多重连接依赖性探针扩增和高分辨率核型在眼耳颜面血管异常谱系疾病的鉴别诊断中的应用：系统综述
Andressa Barreto Glaeser,Bruna Lixinski Diniz,Desirée Deconte et al.
Andressa Barreto Glaeser et al.
Oculoauriculovertebral spectrum (OAVS) is a rare class of heterogenous congenital craniofacial malformation conditions of unknown etiology. Although classic OAVS has been described as hemifacial microsomia with facial asymmetry and microtia...
8-Hydroxy-2'-Deoxyguanosine in Sperm DNA and Increased Risk of Nonfamilial Sporadic Heritable Retinoblastoma in the Child [0.03%]
精子DNA中的8-羟基脱氧鸟苷与儿童非遗传性视网膜母细胞瘤发病风险增加的关系
Shilpa Bisht,Bhavna Chawla,Rima Dada
Shilpa Bisht
Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease [0.03%]
诺林病患者基因型与表型分析：胱氨酸110号位点新型致病突变报告
Jaspreet Garcha,Angita Jain,Herjot Atwal et al.
Jaspreet Garcha et al.
Norrie disease is an X-linked genetic disorder caused by pathogenic mutations in the NDP . Here, we describe the clinical phenotype and genotype in a 19-week-old male infant with bilateral retinal detachment. Whole exome sequencing using av...
Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome [0.03%]
表现为黏脂贮积症Ⅱ型合并莱igh综合征的早产儿病例报告
Rebecca R Speer,Uzoamaka C Ezeanya,Sarah J Beaudoin et al.
Rebecca R Speer et al.
Mucolipidosis II α/beta (MLII) is an autosomal recessive disease in which a gene mutation leads to improper targeting of lysosomal enzymes with an end result of accumulation of lysosomes in the mitochondria resulting in a dysfunctional mit...
Mara Lelii,Elena Baggi,Laura Senatore et al.
Mara Lelii et al.
Sleep-disordered breathing (SDB) is common in children, especially in those with congenital or genetic diseases. The factors involved include obstructive sleep apnea, disrupted rapid eye movement sleep, and central hypoventilation. Diagnosi...
Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C [0.03%]
利用外显子组测序技术鉴定两个具有自体显性松弛皮肤综合征1C型患儿的LTBP4基因新型19碱基缺失突变
Neerja Gupta,Nitika Langeh,Aparajit Sridharan et al.
Neerja Gupta et al.
Autosomal recessive type I cutis laxa is genetically heterogeneous. Biallelic mutations in latent transforming growth factor β-binding protein 4 (LTBP4; MIM*604710) lead to type 1C cutis laxa due to nonsense, frameshift, single base pair i...