Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system [0.03%]
一个家族中遗传的新型CDX2变异体与泌尿生殖系统多种先天畸形相关
Swetha Ramadesikan,Caitlyn M Colwell,Rachel Supinger et al.
Swetha Ramadesikan et al.
Anorectal malformations (ARMs) constitute a group of congenital defects of the gastrointestinal and urogenital systems. They affect males and females, with an estimated worldwide prevalence of 1 in 5000 live births. These malformations are ...
Leukemic presentation and progressive genomic alterations of MCD/C5 diffuse large B-cell lymphoma (DLBCL) [0.03%]
MCD/C5弥漫性大B细胞淋巴瘤(DLBCL)的白血病表现和渐进性的基因组改变
Patricia M Kim,Reza Nejati,Pin Lu et al.
Patricia M Kim et al.
Diffuse large B-cell lymphoma (DLBCL) is a heterogenous group of lymphoid malignancies. Based on gene expression profiling, it has been subdivided into germinal center (GC)-derived and activated B-cell (ABC) types. Advances in molecular met...
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment [0.03%]
UQCRC2新致病突变导致的女孩正常神经发育案例研究
Lea Abou Haidar,Robert C Harris,Panayotis Pachnis et al.
Lea Abou Haidar et al.
Electron transport chain (ETC) disorders are a group of rare, multisystem diseases caused by impaired oxidative phosphorylation and energy production. Deficiencies in complex III (CIII), also known as ubiquinol-cytochrome c reductase, are p...
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy [0.03%]
TRPM3新发错义突变与神经发育迟缓和脑瘫表现型相关性研究
Jagadish Chandrabose Sundaramurthi,Anita M Bagley,Hannah Blau et al.
Jagadish Chandrabose Sundaramurthi et al.
We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) usi...
Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young [0.03%]
PDX1新致病基因变异导致的青年发病成熟型糖尿病家系分析
Hyunji Kim,Hwa Young Kim,Jae Hyun Kim et al.
Hyunji Kim et al.
The diagnosis of maturity-onset diabetes of the young (MODY), a monogenic form of diabetes mellitus caused by a mutation in a single gene, is often uncertain until genetic testing is performed. We report a 13-yr-old Korean boy who was initi...
The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer [0.03%]
低级别儿童脑癌患者中提升分子诊断的重要性
Majd Al Assaad,Gunes Gundem,Benjamin Liechty et al.
Majd Al Assaad et al.
Pilocytic astrocytomas are the most common pediatric brain tumors, typically presenting as low-grade neoplasms. We report two cases of pilocytic astrocytoma with atypical tumor progression. Case 1 involves a 12-yr-old boy with an unresectab...
Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy [0.03%]
HPGD p.Ala13Glu变异引起原发性肥大性骨关节病的再分类
Juan J Alban,Alejandra Arango-Ramirez,Jorge A Olave-Rodriguez et al.
Juan J Alban et al.
Here, we highlight the case of a 31-yr-old man who had clinical features of primary hypertrophic osteoarthropathy (PHOAR) and harbored a homozygous variant (c.38C > A, p.Ala13Glu) in the HPGD gene, as indicated by whole-exome sequencing (WE...
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure [0.03%]
快速基因组诊断肺泡毛细血管发育不良并指导呼吸循环衰竭患儿治疗
Dana R Tower,Ronald W Day,Tighe Marrone et al.
Dana R Tower et al.
Alveolar capillary dysplasia (ACD) is a fatal disorder that typically presents in the neonatal period with refractory hypoxemia and pulmonary hypertension. Lung biopsy is traditionally required to establish the diagnosis. We report a 22-mo-...
Evaluation of hypereosinophilia in a case of FLT3-mutant acute myeloid leukemia treated with gilteritinib [0.03%]
评估gilteritinib治疗FLT3突变急性髓系白血病所致高嗜酸性粒细胞综合征
Leslie N Martinez-Gutierrez,Blake C Burgher,Manuel J Glynias et al.
Leslie N Martinez-Gutierrez et al.
Acute myeloid leukemias (AMLs) frequently harbor activating mutations in Fms-like tyrosine kinase 3 (FLT3). The use of FLT3 inhibitors (FLT3i) is the standard of care for treatment of newly diagnosed and relapsed patients with AML. Differen...
FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report [0.03%]
错诊为拉尔森综合征的FKBP14型脊柱侧凸/后凸艾勒斯-丹洛斯综合征1例报告
Amy Wiegand,Rama Kastury,Arpita Neogi et al.
Amy Wiegand et al.
Hereditary connective tissue disorders have overlapping phenotypes, particularly in regard to musculoskeletal features. This contributes to the challenge of phenotype-based clinical diagnoses. However, some hereditary connective tissue diso...