Ari Horton,Kai Mun Hong,Dinusha Pandithan et al.
Ari Horton et al.
Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in ETHE1 (MIM #608451), characterized by global developmental delay, infantile hypotonia, seizures, and microvascular d...
Esko A Kautto,Kathleen M Schieffer,Sean McGrath et al.
Esko A Kautto et al.
Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is ...
Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature [0.03%]
cobalamin C疾病的相关神经发育及神经精神障碍一例报告及文献复习
Minh G Nguyen,Lauren Tronick,Faraz Modirian et al.
Minh G Nguyen et al.
Cobalamin C disease is the most common complementation class of cobalamin disorders. Here, we present a case of a 14-yr-old male with early-onset cblC disease and autism spectrum disorder (ASD) admitted to our inpatient medical service for ...
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder [0.03%]
遗传和新生变异扩展了TAOK1相关神经发育障碍的病因学
Jesse M Hunter,Lauren J Massingham,Kandamurugu Manickam et al.
Jesse M Hunter et al.
Alterations in the TAOK1 gene have recently emerged as the cause of developmental delay with or without intellectual impairment or behavioral abnormalities (MIM # 619575). The 32 cases currently described in the literature have predominantl...
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease [0.03%]
两个患小脑桥脑萎缩型2D的兄弟姐妹中的双等位基因SEPSECS突变再次强调了剪接干扰同义变异在疾病发生中的相关性
Swetha Ramadesikan,Scott Hickey,Emily De Los Reyes et al.
Swetha Ramadesikan et al.
Noncoding and synonymous coding variants that exert their effects via alternative splicing are increasingly recognized as an important category of disease-causing variants. In this report, we describe two siblings who presented with hypoton...
Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program [0.03%]
IGF1R基因新突变的再分析：一个具有 variably表型的家庭在 prenatal和postnatal生长迟缓及畸形特征方面的研究以及IUSM-URDC（未诊断罕见病门诊）计划的优势和可行性
Annalise Jacobs,Catherine Burns,Purva Patel et al.
Annalise Jacobs et al.
IGF1R-related disorders are associated with intrauterine growth restriction (IUGR), postnatal growth failure, short stature, microcephaly, developmental delay, and dysmorphic facial features. We report a patient who presented to medical gen...
Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report [0.03%]
间质和分子特性均可塑的ALK阳性的非小细胞肺癌在靶向治疗过程中的病理变化及报告分析：1例患者的临床经验
Markus Ball,Petros Christopoulos,Martina Kirchner et al.
Markus Ball et al.
With medical progress in cancer therapy, tyrosine kinase inhibitors (TKIs) became a standard of care for many cancer types. But the broad range of possible targeted therapies was accompanied by a plethora of potential resistance mechanisms,...
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease [0.03%]
全外显子组测序在两名患有麦克阿德尔病的成人中检测到PYGM变异型
Amanda Thomas-Wilson,Avinash V Dharmadhikari,Jonas J Heymann et al.
Amanda Thomas-Wilson et al.
McArdle disease is a debilitating glycogen storage disease with typical onset in childhood. Here, we describe a former competitive athlete with early adult-onset McArdle disease and a septuagenarian with a history of exercise intolerance si...
Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation [0.03%]
PI3KCA、GNAS和PTEN突变在具有MYOD1 L122R突变的肌纤维母细胞型横纹肌肉瘤中的功能影响及靶向性
Florence Choo,Igor Odintsov,Kevin Nusser et al.
Florence Choo et al.
Spindle cell/sclerosing rhabdomyosarcoma (ssRMS) is a rare subtype of rhabdomyosarcoma, commonly harboring a gain-of-function L122R mutation in the muscle-specific master transcription factor MYOD1. MYOD1-mutated ssRMS is almost invariably ...
Novel variants identified in CKAP2L in two siblings with Filippi syndrome [0.03%]
两个具有Filippi综合征兄弟姐妹中的CKAP2L新变异识别
Ryan J Patrick,Jill Weimer,Laura Davis-Keppen et al.
Ryan J Patrick et al.
Pathogenic variants in CKAP2L have previously been reported in Filippi syndrome (FS), a rare autosomal recessive, craniodigital syndrome characterized by microcephaly, syndactyly, short stature, intellectual disability, and dysmorphic facia...