A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia [0.03%]
WDR81新纯合子移码突变与微小光滑脑症、无胼胝体和 pontocerebellar 淀粉样变性相关研究
Tibor Kalmár,Katalin Szakszon,Zoltán Maróti et al.
Tibor Kalmár et al.
Microlissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum agenesis and pontocerebellar hypoplasia. In this case report, we described two siblin...
A Case of Neonatal Diabetes Mellitus Due to INS Gene Mutation with Maternal Mosaicism and Atypical Presentation [0.03%]
由于INS基因突变导致的伴有母系镶嵌体和非典型表现的新生儿糖尿病一例
Varuna Vyas,Deepthi K,Kuldeep Singh
Varuna Vyas
Neonatal diabetes mellitus is a single gene defect that results in diabetes mellitus in the first 6 months of life. We report a child who was diagnosed to be hyperglycemic at 13 months of life and assumed to have type 1 diabetes mellitus an...
Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman's Syndrome Undergoing Posterior Spinal Fusion Surgery [0.03%]
一名患有大疱性表皮松解症和Gitelman综合征的青少年患者接受后路脊柱融合术的麻醉挑战
Edgar E Kiss,Neethu Chandran,Gijo Alex et al.
Edgar E Kiss et al.
Surgical correction for scoliosis is undertaken to avoid progression to cardiopulmonary compromise as well as improve the patient's overall quality of life. In this case report, we presented a case of a 14-year-old girl with epidermolysis b...
Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees [0.03%]
Charcot-Marie-Toooth病4C的新变异及家族内差异：勿因细节而忽视全貌
Maria Gogou,Evangelos Pavlou,Vasilios Kimiskidis et al.
Maria Gogou et al.
Charcot-Marie-Tooth 4C is characterized by early-onset, rapid progression, and mainly associated with SH3TC2 gene mutations. We reported a male patient carrying a novel heterozygous nonsense mutation in SH3TC2 gene along with a heterozygous...
Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1 [0.03%]
全外显子组测序在成骨细胞 stripe 样变与颅骨硬化症病例中提供正确诊断：AMER1 基因新型无义突变报告
José María García-Aznar,Noelia Ramírez,David De Uña et al.
José María García-Aznar et al.
The diagnosis of rare diseases with multisystem manifestations can constitute a difficult process that delays the determination of the underlying cause. Whole exome sequencing (WES) provides a suitable option to examine multiple target gene...
Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant [0.03%]
一名埃及女婴的新发11p14.3-p15.5重复和18q23缺失的临床及细胞基因组特征分析
Hanan H Afifi,Ghada Y El-Kamah,Alaa K Kamel et al.
Hanan H Afifi et al.
Paternal microduplication of 11p14.3-p15.5 causes the clinical manifestations of Beckwith-Wiedemann syndrome (BWS), while microdeletion of 18q23-ter is clinically characterized by short stature, congenital malformations, and developmental d...
Samantha A Kops,Ranjit I Kylat,Shanti Bhatia et al.
Samantha A Kops et al.
Bardet-Biedl syndrome (BBS) is a rare ciliopathy affecting multiple organ systems. Patients with BBS are usually diagnosed later in childhood when clinical features of the disease become apparent. In this article, we presented a case of BBS...
Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt [0.03%]
埃及 upperegypt 地区 maple syrup urine disease 的临床、生化、分子及治疗分析
Marwa A Dahpy,Tahia H Saleem,Osama M El-Asheer et al.
Marwa A Dahpy et al.
Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in any of the genes encoding for the branched-chain keto dehydrogenase (BCKDH) components. This study screened MSUD patients through...
Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature [0.03%]
儿童交替性偏瘫的遗传特征及临床特点：印度南方四例基因学确诊报道及文献复习
Naveen Kumar Bhardwaj,Vykuntaraju K Gowda,Ashwin Vivek Sardesai
Naveen Kumar Bhardwaj
Alternating hemiplegia of childhood (AHC) is a rare autosomal dominant neurodevelopmental disorder with mutation on ATP1A3 gene. Delay in diagnosis and inappropriate diagnosis are common. In this article, we described four genetically confi...
Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center [0.03%]
沙特患者3-羟基-3-甲基戊二酸辅酶A裂解酶缺乏的肝脏表现：三级医疗中心的经验
Sinan Holdar,Zuhair Rahbeeni,Khushnooda Ramzan et al.
Sinan Holdar et al.
3-Hydroxy-3-methylglutaryl-coenzyme-A lyase (HMGCL) deficiency, a rare autosomal recessive disorder, is caused by a homozygous or compound heterozygous mutation in the HMGCL gene (chromosome 1p36.11). HMGCL catalyzes the final step of leuci...