6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation [0.03%]
6q13q14.3微缺失综合征伴严重低张力和面部畸形：基因型与表型的相关性
Manisha Goyal,Mohammed Faruq,Ashok Gupta et al.
Manisha Goyal et al.
Hypotonia is a symptom of diminished tone of skeletal muscle and can be nongenetic or a part of genetic syndrome. Hypotonia, developmental delay, and facial dysmorphism are nonspecific findings observed in many genetic syndromes mostly in c...
Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder [0.03%]
遗传病患儿去世的父母悲伤期间宗教应对方式的重要性研究
Hüseyin Çaksen
Hüseyin Çaksen
The HBG2 rs7482144 (C > T) Polymorphism is Linked to HbF Levels but not to the Severity of Sickle Cell Anemia [0.03%]
HBG2rs7482144（C＞T）多态性与血红蛋白F水平有关，但与镰状细胞贫血的严重程度无关
Bhaskar V K S Lakkakula,Smaranika Pattnaik
Bhaskar V K S Lakkakula
Sickle cell anemia (SCA) is a severe disease characterized by anemia, acute clinical complications, and a relatively short life span. In this disease, abnormal hemoglobin makes the red blood cells deformed, rigid, and sticky. Fetal hemoglob...
RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report [0.03%]
早发型癫痫性脑病的新型候选基因RHOTB2：文献复习及病例报告
Jacinta Fonseca,C Melo,C Ferreira et al.
Jacinta Fonseca et al.
Early infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containin...
Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review [0.03%]
营养不良性大疱性表皮松解症中皮肤鳞状细胞癌的危险因素：系统评价
Brenda Lamônica Rodrigues de Azevedo,Gabriel Marim Roni,Rosalie Matuk Fuentes Torrelio et al.
Brenda Lamônica Rodrigues de Azevedo et al.
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe subtype of epidermolysis bullosa caused by changes in collagen VII with a high risk of early development of cutaneous squamous cell carcinoma (cSCC). This review aimed to discuss...
Erratum: Erratum: KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5'-Phosphate [0.03%]
勘误表：对维生素B6有反应的KCNQ2脑病的勘误表
Chit Kwong Chow,Ho Ming Luk,Suet Na Wong
Chit Kwong Chow
[This corrects the article DOI: 10.1055/s-0040-1721384.]. Thieme. All rights reserved.
Published Erratum
Journal of pediatric genetics. 2021 Oct 8;12(1):e1. DOI:10.1055/s-0041-1735896 2021
Acácia Fernandes Lacerda de Carvalho,Paula Monique Leite Pitanga,Esmeralda Santos Alves et al.
Acácia Fernandes Lacerda de Carvalho et al.
Approximately 30 sex chromosome discordant chimera cases have been reported to date. In particular, there are few reported cases of chimerism involving coexisting normal and abnormal lineages that each carries a distinct sex chromosome comp...
Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India [0.03%]
印度罕见疾病中心的软骨发育不全：临床、影像学和分子特征
Manisha Goyal,Ashok Gupta,Anu Bhandari et al.
Manisha Goyal et al.
Achondroplasia is the most common autosomal dominant form of skeletal dysplasia and is caused by heterozygous mutations of the fibroblast growth factor receptor 3 ( FGFR3 ) gene at region 4p16.3. This study highlights the data of achondropl...
Aakash Chandran Chidambaram,Milan Talwar,Ananthanarayanan Kasinathan et al.
Aakash Chandran Chidambaram et al.
Pyridoxine-dependent epilepsy (PDE) (OMIM 266100) is an autosomal recessive disorder of lysine metabolism secondary to antiquitin deficiency. The prototypical presentation is intractable neonatal seizures that do not respond to conventional...
Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population [0.03%]
甘氨酸脱羧酶基因的纯合新变异与特定人群中的非酮症高甘氨酸血症相关
Heba Salah Abdelkhalek Elabd,Fatma Bastaki,Mohamed Khalifa
Heba Salah Abdelkhalek Elabd
Glycine encephalopathy (GE), also known as nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder due to a primary defect in the glycine cleavage enzyme system. It is characterized by elevated levels of glycine in the plasma an...