ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant [0.03%]
ATP6V0A2相关皮肤松弛症：在土耳其东南部发现一种带有始祖效应的外显子16缺失以及一个新的无义变异
Zeynep Esener,Murat Öztürk,Esra Habiloğlu et al.
Zeynep Esener et al.
ATP6V0A2-related cutis laxa is a rare autosomal recessive disorder characterized by connective tissue abnormalities, developmental delay, and neurological features. While multiple sequence variants have been reported, exon-level deletions a...
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management [0.03%]
库奇内综合征的吞咽和交流：临床特征和管理
Abigail M Spoden,Katlyn E McGrattan,Peter B Kang
Abigail M Spoden
Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communica...
Genetic and Clinical Characteristics of Chromosome 15q11-q13 Duplication Syndrome in Chinese Children [0.03%]
染色体15q11-q13重复综合征的遗传及临床特征（中国儿童）
Ruo-Yan Liu,Yu-Jia Wu,Chao-Chun Zou
Ruo-Yan Liu
To enhance the diagnosis, management, and monitoring of Chinese children with chromosome 15q11-q13 duplication syndrome (dup15q) by analyzing their genetic and clinical characteristics. In this study, one Chinese prenatal case and 21 postna...
Mohamad Abi Nassif,Ajay Kaul,Lev Dorfman et al.
Mohamad Abi Nassif et al.
Rubinstein-Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series sug...
Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China [0.03%]
中国东部胎儿泌尿系统畸形的遗传异常及临床处理方法
Jie Liang,Jiebin Wu,Lin Zhang et al.
Jie Liang et al.
To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty-f...
Differentiated In Vitro Efficacy of BYL719, ARQ092, and Rapamycin on Fibroblasts Isolated From a Chinese PIK3CA-Related Overgrowth Spectrum Individual With a Novel Variant [0.03%]
BYL719、ARQ092和雷帕霉素对中国PIK3CA相关过度增生谱系疾病携带新型变异个体成纤维细胞的体外疗效差异性研究
Fei Xiong,Qian Wang,Shi-Qi Wang et al.
Fei Xiong et al.
Postzygotic mutations of the PIK3CA gene constitutively activate the PI3K/AKT/mTOR pathway in patients with PIK3CA-related overgrowth spectrum (PROS), causing congenital mosaic tissue overgrowth. We established primary fibroblast cells from...
Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia [0.03%]
鉴定出两种CHM基因新突变导致的choroideremia病例
Farshad Niri,Alina Radziwon,Rachel Mah et al.
Farshad Niri et al.
To investigate the molecular cause of choroideremia in two unrelated patients with no detectable mutations in the CHM gene. Two unrelated patients were examined by an ophthalmologist to obtain a clinical diagnosis. Patient and control cells...
Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New York [0.03%]
2025年7月23日至25日纽约长岛首届ReNU希望大会和科学 symposium总结研讨会总结
Kelsey Crocker,Jillian O&#x;Toole,Lindsay Pearse et al.
Kelsey Crocker et al.
The inaugural ReNU Hope Conference and Scientific Symposium was held from July 23-25, 2025 in Long Island, New York. This historic conference brought together the researchers responsible for the groundbreaking discovery of RNU4-2/ReNU syndr...
D&#x; Arcy B Prendergast,Emma Sullivan,Michael P Mackley et al.
D&#x; Arcy B Prendergast et al.
Expanding the Phenotype of TAB2-Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development [0.03%]
TAB2相关综合征表型的扩展：首例裂腭病例及对腭发育的见解
Alberto De Rosa,Silvia Kalantari,Marta Carboni et al.
Alberto De Rosa et al.