Evaluating the Role of VAX1, MAFB, and NOG in Non-Syndromic Cleft Palate Only Among Japanese Individuals [0.03%]
评估VAX1、MAFB和NOG在日本人孤立性唇裂中的作用
Tran Phuong Thao,Teruyuki Niimi,Le Kha Anh et al.
Tran Phuong Thao et al.
Non-syndromic cleft palate only (NSCPO) is a distinct clinical and etiological entity within the spectrum of orofacial clefts. While genome-wide association studies (GWAS) have identified numerous risk loci for nonsyndromic cleft lip with o...
Development and Dissemination of the Japanese Translation of the Mammalian Phenotype Ontology as an Open Resource [0.03%]
哺乳动物表型本体论的日文译本的开发和传播作为一个开放资源
Terue Takatsuki,Susan M Bello,Tatsuya Kushida et al.
Terue Takatsuki et al.
The Mammalian Phenotype Ontology is a comprehensive controlled vocabulary encompassing phenotypic terms related to congenital anomalies, developmental abnormalities, and other mammalian phenotypes, developed by Mouse Genome Informatics. Alt...
Folic Acid Alleviates X-Ray Irradiation-Induced Jaw Malformation in Zebrafish [0.03%]
叶酸通过改善辐照诱导的斑马鱼下颌畸形损伤中的巨噬细胞极化状态以达到促进组织再生的作用机制研究
Tanisha Das,Takashi Shiromizu,Aina Higuchi et al.
Tanisha Das et al.
X-rays are a form of ionizing radiation that has sufficient energy to remove electrons from atoms, thereby creating potentially harmful ions. X-ray irradiation during organogenesis can have profound detrimental effects, depending on the dev...
Multifocal Neuroblastoma in Rubinstein-Taybi Syndrome Harboring a Novel CREBBP Variant Identified by Paired Whole Genome Sequencing [0.03%]
Rubinstein-Taybi综合征伴发多中心神经母细胞瘤并携带有CREBBP新变异基因且已由配对的整个基因组测序技术所识别
Yuki Fushimi,Yasuhiro Kawai,Dai Keino et al.
Yuki Fushimi et al.
Rubinstein-Taybi syndrome (RTS) is caused by germline loss-of-function variants of CREBBP or EP300, which function as histone acetyltransferases and act as tumor suppressors. Various benign or malignant tumors have been reported in RTS, sug...
Case Reports
Congenital anomalies. 2026 Jan-Dec;66(1):e70068. DOI:10.1002/cga.70068 2026
Congenital Anomalies and Consanguinity in a Rural Community of Punjab, Pakistan: A Cross-Sectional Study [0.03%]
巴基斯坦旁遮普省一个农村社区的先天畸形和近亲结婚：一项横断面研究
Syed Saad,Adnan Qureshi
Syed Saad
Consanguineous marriage is common in Pakistan and has been linked to an elevated risk of congenital anomalies (CAs), yet community-based evidence from rural settings remains limited. This study examined the prevalence and patterns of congen...
Mosaic Variant in Unilateral Woolly Hair in a Girl With PIK3CA-Related Overgrowth Spectrum [0.03%]
PIK3CA相关过度生长谱系综合征伴单侧毛发卷曲变异型
Ryosuke Tanaka,Ryo Takeguchi,Yuichi Akaba et al.
Ryosuke Tanaka et al.
The phosphatidylinositol-3-kinase (PI3K)-AKT-mTOR pathway plays a central role in cellular growth and survival, and somatic activating variants in PIK3CA cause PIK3CA-related overgrowth spectrum (PROS). Because these variants arise postzygo...
Case Reports
Congenital anomalies. 2026 Jan-Dec;66(1):e70066. DOI:10.1002/cga.70066 2026
Morphogenesis of the Extraocular Muscles During the Human Embryonic and Early Fetal Periods [0.03%]
人胚早期胎期内直肌的形态发生
Miho Osaka,Shigehito Yamada,Hirohiko Imai et al.
Miho Osaka et al.
Previous histological studies have shown that the extraocular muscles (EOMs) within the orbit are unique among skeletal muscles in both developmental origin and timing. However, three-dimensional (3D) morphological information and quantitat...
Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals [0.03%]
HDAC8内含子变异c.112-15C>A导致科利奥尼亚·德·兰热综合征家族性异常剪接（杂合子和单体型个体）
Yukiko Kuroda,Koki Nagai,Yoko Saito et al.
Yukiko Kuroda et al.
The HDAC8 variant is causative for X-linked Cornelia de Lange syndrome (CdLS) and shows skewed X-inactivation in heterozygous female patients, who tend to present with milder phenotypes than hemizygous male patients. We report a slightly de...
Case Reports
Congenital anomalies. 2026 Jan-Dec;66(1):e70064. DOI:10.1002/cga.70064 2026
Clinical and Genetic Findings in Two Japanese Individuals With SET-Related Neurodevelopmental Disorder [0.03%]
SET相关神经发育障碍两名日本患者的临床和基因研究发现
Eriko Nishi,Kumiko Yanagi,Tadashi Kaname et al.
Eriko Nishi et al.
SET-related neurodevelopmental disorder (OMIM #618106) is an emerging condition for which the phenotypic spectrum remains incompletely defined. We report two unrelated Japanese individuals with distinct genomic alterations affecting SET: a ...
Case Reports
Congenital anomalies. 2026 Jan-Dec;66(1):e70063. DOI:10.1002/cga.70063 2026
Urinary Metabolic Screening Misled the Molecular Diagnosis of Xia-Gibbs Syndrome [0.03%]
尿代谢筛查误导了Xia-Gibbs综合征的分子诊断
Sayaka Enomoto,Toru Nagata,Takushi Inoue et al.
Sayaka Enomoto et al.