Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay [0.03%]
天使人综合症表型变异的基因删除影响：97例运动发育迟缓患者表型与基因型相关性研究
Hanae Daha Belghiti,Meriame Abbassi,Hanane Sayel et al.
Hanae Daha Belghiti et al.
Angelman syndrome (AS) is a rare neurodevelopmental disorder due to genetic defects involving chromosome 15, known by intellectual disability, cognitive and behavioral disorders, ataxia, delayed motor development, and seizures. This study h...
Autoimmune Hemolytic Anemia Due to Spondyloenchondrodysplasia with Spastic Paraparesis and Intracranial Calcification due to Mutation in ACP5 [0.03%]
ACP5基因突变所致松果体囊肿性骨关节炎综合征合并自身免疫性溶血性贫血病例报告
Sema Aylan Gelen,Bülent Kara,Isil Eser Şimsek et al.
Sema Aylan Gelen et al.
Spondyloenchondrodysplasia (SPENCD) is a rare spondylometaphyseal skeletal dysplasia with characteristic lesions mimicking enchondromatosis and resulting in short stature. A large spectrum of immunologic abnormalities may be seen in SPENCD,...
Mateus A de Souza,Jéssica K Hartmann,Laira F F Zottis et al.
Mateus A de Souza et al.
Mosaic trisomy 8 is a condition characterized by a great phenotypic and cytogenetic variability whose incidence ranges around 1 in 25,000 to 50,000 live births. Here, we report a mosaic trisomy 8 patient presenting laryngotracheomalacia, an...
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia [0.03%]
FOXP1单基因不足导致先天性膈疝发病风险增加
Katherine E Pendleton,Andres Hernandez-Garcia,Jennifer M Lyu et al.
Katherine E Pendleton et al.
FOXP1 encodes a transcription factor involved in tissue regulation and cell-type-specific functions. Haploinsufficiency of FOXP1 is associated with a neurodevelopmental disorder: autosomal dominant mental retardation with language impairmen...
Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase ( ASNS ) Gene [0.03%]
重新分析外显子组数据识别出错过的天冬酰胺合成酶（ASNS）基因剪切位点变异
Ghalia Al-Kasbi,Fathiya Al-Murshedi,Amna Al-Futaisi et al.
Ghalia Al-Kasbi et al.
Next-generation sequencing, such as whole-exome sequencing (WES), is increasingly used in the study of Mendelian disorders, yet many are reported as "negative." Inappropriate variant annotation and filtering steps are reasons for missing th...
Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy [0.03%]
染色质异常相关常见联征的智能型鉴别诊断体系之建立与应用研究
Anupriya Kaur,Chakshu Chaudhry,Parminder Kaur et al.
Anupriya Kaur et al.
Chromatinopathy is an emerging category of multiple malformation syndromes caused by disruption in global transcriptional regulation with imbalances in the chromatin states (i.e., open or closed chromatin). These syndromes are caused by pat...
Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)-A Case Series with Recurrent c.740_741del Variant [0.03%]
儿童进行性假风湿样发育不良（PPRD）的病例系列，带有反复出现的c.740 _ 741 del变异型
Mayank Nilay,Anup Rawool,Kausik Mandal
Mayank Nilay
Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive arthropathy, affecting school-aged children. It is characterized by progressive degeneration of the articular cartilage. The majority of the pathogenic variations are f...
Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature [0.03%]
COL1A2、DLX5/6基因缺失引起的成骨不全和足分裂畸形的文献综述
Özden Öztürk,Haydar Bagis,Semih Bolu
Özden Öztürk
Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and psychiatric disorders. Osteogenesis imperfecta caused by wh...
Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot-Marie-Tooth's Disease in Brazil [0.03%]
巴西儿童期发病的脱髓鞘夏-玛丽-图病的临床及基因特征研究
Roberta Ismael Lacerda Machado,Paulo Victor Sgobbi de Souza,Igor Braga Farias et al.
Roberta Ismael Lacerda Machado et al.
Charcot-Marie-Tooth's disease (CMT) represents the most common inherited neuropathy. Most patients are diagnosed during late stages of disease course during adulthood. We performed a review of clinical, neurophysiological, and genetic diagn...
The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader-Willi Syndrome in Thai Patients [0.03%]
MS-MLPA作为泰国普拉德-威利综合征诊断一线检测的运用研究
Chanita Prapasrat,Preyaporn Onsod,Veerawat Korkiatsakul et al.
Chanita Prapasrat et al.
Prader-Willi syndrome (PWS) is a genetic disorder caused by the expression disruption of genes on the paternally inherited allele of chromosome 15q11.2-q13. Apart from clinical diagnostic criteria, PWS is confirmed by genetic testing. Methy...