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.
Synergistic Role of Retinoid and Gata3 Signaling in Olfactory Epithelium Development [0.03%]
视黄醇和Gata3信号在嗅觉上皮发育中的协同作用
Ayaka Matsushita,Takayuki Tsujimoto,Nie Xiuping et al.
Ayaka Matsushita et al.
Craniofacial development requires precise coordination of epithelial patterning and morphogenesis. However, the molecular mechanisms governing olfactory epithelium development remain incompletely understood. Retinoic acid (RA) signaling and...
Hypoplastic Left Heart Syndrome Variant With Unexpected Early Sudden Death in a Newborn Infant With ZTTK Syndrome [0.03%]
左心发育不全综合征变异型致ZTTK 综合征新生儿意外猝死
Kengo Okamoto,Daisuke Nakato,Koichi Kataoka et al.
Kengo Okamoto et al.
A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia [0.03%]
Geleophysic Dysplasia 1的新生儿表现：与Al-Gazali骨骼发育不良重叠表型的病例报告
Kazuhiro Shimura,Yuko Tsujioka,Toshihide Kijima et al.
Kazuhiro Shimura et al.
Geleophysic dysplasia type 1 is a rare skeletal dysplasia caused by biallelic pathogenic variants in ADAMTSL2. Affected children typically show a "happy-natured facial appearance," postnatal short stature with acromelic limb shortening, pro...
Case Reports
Congenital anomalies. 2026 Jan-Dec;66(1):e70058. DOI:10.1002/cga.70058 2026
Two Cases of Prenatally Suspected Fetal Bartter Syndrome With a Novel Genetic Variant Indicated by Polyhydramnios and Amniotic Fluid Biochemistry [0.03%]
polyhydramnios和羊水生化提示Bartter综合征胎儿的两例产前诊断及一例新基因变异报告
Tomomichi Ito,Norikazu Watanabe,Keiko Yamanouchi et al.
Tomomichi Ito et al.
Cohort Study of Pregnancy Outcomes After Exposure to Fexofenadine or Olopatadine in the First Trimester [0.03%]
首 trimester 孕期服用氟芬那敏或奥洛帕坦对妊娠结局影响的队列研究
Kaori Yamazaki,Mikako Goto,Sachi Koinuma et al.
Kaori Yamazaki et al.
Medication safety must be carefully considered during pregnancy because of the potential risks to the fetus. Allergic diseases during pregnancy, oral second-generation antihistamines, such as fexofenadine and olopatadine, are often used whe...
Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy [0.03%]
14号染色体远端缺失综合征的新生儿表型范围的细化：婴儿期早期的基因组诊断
Koji Nakae,Shiori Hamada,Junpei Kawamura et al.
Koji Nakae et al.
Distal deletion 14q syndrome is a rare chromosomal disorder characterized by variable features, including growth restriction, craniofacial dysmorphism, developmental delay, and congenital anomalies. Diagnosis is often delayed because conven...
Case Reports
Congenital anomalies. 2026 Jan-Dec;66(1):e70055. DOI:10.1002/cga.70055 2026
Pu-Yu Li,Fu-Li Zhao,Yi-Juan Song et al.
Pu-Yu Li et al.
Maternal diabetes is a known factor for neural tube defects (NTDs) in offspring. DNA methylation could be associated with NTDs induced by maternal diabetes. This study investigated whether maternal diabetes disturbs embryonic DNA methylatio...