Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene [0.03%]
SLC17A5基因新杂合缺失导致的婴儿自由唾液酸贮积病伴围产期胎儿水肿
Afia Hasnain,Sherri Burnett,Ronald Agatep et al.
Afia Hasnain et al.
Nonimmune hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible etiologies, providing a diagnostic challenge for the physician. Lysosomal storage diseases...
MED13L-related intellectual disability due to paternal germinal mosaicism [0.03%]
与父系生殖细胞嵌合突变相关的MED13L智力障碍
Beáta Bessenyei,István Balogh,Attila Mokánszki et al.
Beáta Bessenyei et al.
The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without cardiac defects; MIM # 616789) is one of the most common forms of syndromic intellectual disability with about...
Christopher L Sudduth,Dennis J Konczyk,Patrick J Smits et al.
Christopher L Sudduth et al.
Bockenheimer disease is a venous malformation involving all tissues of an extremity. Patients have significant morbidity, and treatment is palliative. The purpose of this study was to identify the cause of Bockenheimer disease to develop ph...
Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome [0.03%]
具有皮脂 Nevus 综合征的个体脑组织中反复出现的KRAS嵌合型变种的确认
Timothy E Green,Duncan MacGregor,Susan M Carden et al.
Timothy E Green et al.
Nevus sebaceous syndrome (NSS) is a rare, multisystem neurocutaneous disorder, characterized by a congenital nevus, and may include brain malformations such as hemimegalencephaly or focal cortical dysplasia, ocular, and skeletal features. I...
Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome [0.03%]
病例报告：一名患有普罗透斯综合征的个体使用miransertib (MK-7075) 进行AKT抑制五年的经验
Christopher A Ours,Julie C Sapp,Mia B Hodges et al.
Christopher A Ours et al.
Proteus syndrome is a rare overgrowth disorder caused by postzygotic activating variants in AKT1 Individuals may develop a range of skin, bone, and soft tissue overgrowth leading to functional impairment and disfigurement. Therapy for this ...
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features [0.03%]
具有Beckwith-Wiedemann谱特征的双父系单亲二体性染色体7和15
Siren Berland,Cecilie F Rustad,Mariann H L Bentsen et al.
Siren Berland et al.
Here we describe for the first time double paternal uniparental isodisomy (iUPD) 7 and 15 in a baby boy with features in the Beckwith-Wiedemann syndrome spectrum (BWSp) (placentomegaly, hyperinsulinism, enlarged viscera, hemangiomas, and ea...
Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant [0.03%]
由体细胞KRAS变异导致的伴有淋巴水肿的帕克斯韦伯综合征
Whitney Eng,Christopher L Sudduth,Dennis J Konczyk et al.
Whitney Eng et al.
Parkes Weber syndrome is a vascular malformation overgrowth condition typically involving the legs. Its main features are diffuse arteriovenous fistulas and enlargement of the limb. The condition has been associated with pathogenic germline...
Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome [0.03%]
马福奇综合征成人男性患者体细胞IDH1变异(p.R132C)
Natasha J Brown,Zimeng Ye,Chloe Stutterd et al.
Natasha J Brown et al.
Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported individuals. Features i...
A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum [0.03%]
DYNC1H1中的新型变异可能导致人类运动神经元病-额颞叶痴呆谱系疾病
Alexios-Fotios A Mentis,Dimitrios Vlachakis,Eleni Papakonstantinou et al.
Alexios-Fotios A Mentis et al.
Amyotrophic lateral sclerosis (ALS) belongs to the ALS-frontotemporal dementia (FTD) spectrum and is hallmarked by upper and lower motor neuron degeneration. Here, we present a patient with a cytoplasmic dynein 1 heavy chain 1 (DYNC1H1) pat...
Intra- and intertumoral heterogeneity of liver metastases in a patient with uveal melanoma revealed by single-cell RNA sequencing [0.03%]
单细胞RNA测序揭示脉络膜黑色素瘤患者肝转移灶的肿瘤内和瘤间异质性
Weitao Lin,Aaron B Beasley,Nima Mesbah Ardakani et al.
Weitao Lin et al.
Tumor heterogeneity is a major obstacle to the success of cancer treatment. An accurate understanding and recognition of tumor heterogeneity is critical in the clinical management of cancer patients. Here, we utilized single-cell RNA sequen...