Diagnostic Delays in Rare Genetic Disorders with Neuropsychiatric manifestations: A Systematic Review [0.03%]
罕见遗传性神经精神疾病的诊断延迟：系统评价研究
Isaac J Siegel,Sarah L Vaithilingam,Madeline M Hartig et al.
Isaac J Siegel et al.
A systematic review of case reports, case series, and case-control studies was conducted to quantify the diagnostic delay in 84 rare genetic diseases where neuropsychiatric symptoms may be primary or part of the early clinical presentation....
Evaluating Parental Satisfaction and Empowerment with Genetic Testing in the Neonatal Intensive Care Unit (NICU) [0.03%]
新生儿重症监护室(NICU)遗传检测的家长满意度和赋权评估
Sunu Kim,Horacio Osiovich,Sylvie Langlois et al.
Sunu Kim et al.
Genetic disorders are highly represented in the neonatal intensive care unit (NICU). Genetic testing (in particular rapid genome-wide sequencing) has transformed the ability to diagnose and manage these infants. The NICU is a place of stres...
Familial inheritance of 14q terminal deletion syndrome and review of the literature [0.03%]
14q终端缺失综合征的母系遗传及文献复习
Krista M Vincent,Bradley Prince,McGowan-Jordan Jean et al.
Krista M Vincent et al.
Terminal deletions of chromosome 14q are characterized by a spectrum of phenotypes that can include microcephaly, growth deficiency, intellectual disability, characteristic facial features, and various congenital anomalies. The rarity of th...
A Rare Triplication of 16p11.2: Unravelling the Genomic Complexity and review of the literature [0.03%]
16p11.2区三体现象的研究及其文献回顾
Liselot van der Laan,Lotte Kleinendorst,Martin A Haagmans et al.
Liselot van der Laan et al.
16p11.2 triplication is a rare chromosomal disorder associated with developmental delay, behavioral abnormalities, and various dysmorphic features. Here, we present a case study of a four-year-old girl with 16p11.2 triplication, whose healt...
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: a new case report [0.03%]
西罗莫司对MTOR相关巨脑症合并色素镶嵌患者的行为改善作用缺失：一个新的病例报告
Bertille Bonniaud,Maxime Luu,Coline Cormier et al.
Bertille Bonniaud et al.
Postzygotic activating MTOR variants result in neurocutaneous mosaic phenotypes including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism (hypomelanosis of Ito), whereas germline activating variants cause Smith-Kinsgmore ...
Identifying patients with Neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM [0.03%]
使用OMOP CDM识别与视神经通路胶质瘤相关的1型神经纤维瘤病患者
Britt A E Dhaenens,Maxim Moinat,Eva-Maria Didden et al.
Britt A E Dhaenens et al.
Neurofibromatosis type 1 (NF1) is a rare tumour predisposition syndrome. Optic pathway gliomas (NF1-related OPG) are a well-characterised tumour type. There is great need for tools that can efficiently identify patients with NF1-related OPG...
The craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review [0.03%]
釉质肾综合征的颅面，牙齿和全身表现：范围综述
Roomaney Ia,S Kabbashi,M Chetty
Roomaney Ia
Introduction: Enamel Renal Syndrome (ERS) (OMIM 204690) is a rare genetic condition characterised by a distinct oral profile and sometimes nephrocalcinosis. This autosomal recessive condition, caused by pathogenic variant...
Isolated Congenital Vertebral Anomaly and Sprengel's Deformity in a WBP11 Pathogenic Variant [0.03%]
WBP11致病变异中孤立性先天性椎体畸形和Sprengel畸形
Bo Kyung Shin,Jaewon Kim,Myung Shin Kim et al.
Bo Kyung Shin et al.
The pathogenic variant of WBP11 has been known as one of the various genetic causes of VACTERL syndrome. VACTERL syndrome is usually diagnosed with at least three clinical features of vertebral, heart, tracheal, esophageal, kidney, and limb...
Jolien Huyghebaert,Bregje Christiaenssen,Marjan De Rademaeker et al.
Jolien Huyghebaert et al.
In this study, we employed a multifaceted approach combining short-read whole genome sequencing (WGS) analyzed using Delly, cytogenomics using Bionano technology, and Sanger sequencing to identify the breakpoints of a balanced de novo parac...
Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome [0.03%]
JAK抑制剂Tofacitinib在IFIH1相关Aicardi-Goutières综合征中的短期疗效研究
Ling Hou,Peng Zhou,Yue Du et al.
Ling Hou et al.
Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous type-I interferonopathy presenting in infancy with intracranial calcifications, white matter lesions, and brain atrophy. AGS7, caused by gain-of-function (GOF) mutations in th...