Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome [0.03%]
面部畸形、巨牙、局灶性癫痫及胼胝体变薄：卡布奇诺综合症少见的轻型表现形式
Valentina Bruni,Cristina Scozzafava,Maria Gnazzo et al.
Valentina Bruni et al.
Kabuki syndrome (KS) is a rare genetic condition with multiple congenital abnormalities and developmental delay. The cardinal manifestations of KS include characteristic facial features, intellectual disability, skeletal defects, dermatogly...
Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case [0.03%]
22q11缺失综合征并发假性甲状旁腺功能减退和异位钙化的罕见病例报告
Bruna Lixinski Diniz,Andressa Barreto Glaeser,Desirée Deconte et al.
Bruna Lixinski Diniz et al.
Ectopic calcification in soft tissue is associated with several disorders including pseudohypoparathyroidism (PHP), which is characterized by resistance or nonresponse to parathyroid hormone (PTH) function. Association between PHP and 22q11...
Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype? [0.03%]
新生儿染色体4号缺失综合征并肾发育不良及进行性肾功能衰竭：新表型？
Cláudia Teles-Silva,Francisca Martins,Sandra Costa et al.
Cláudia Teles-Silva et al.
The deletion of the long arm of chromosome 4 is rare, presenting with a variable phenotype depending on the chromosomic area affected. A term newborn with prenatal diagnosis of anhydramnios, dysplastic cystic kidneys, and cardiomegaly was b...
An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome [0.03%]
罕见病案：猫眼综合征患者的完全性肺静脉异位引流并发主动脉弓缩窄
Jason L Williams,Marie T McDonald,Bryce A Seifert et al.
Jason L Williams et al.
Cat eye syndrome (CES) is a rare genetic defect, characterized by iris colobomas, preauricular skin tags, and anal malformations. Affecting 1 in 150,000 people, this defect is caused by duplication or triplication of the proximal long (q) a...
Genetic Polymorphisms of Drug-Metabolizing Enzymes Involved in 6-Mercaptopurine-Induced Myelosuppression in Thai Pediatric Acute Lymphoblastic Leukemia Patients [0.03%]
泰国儿童急性淋巴细胞白血病患者6-巯基嘌呤诱导的骨髓抑制的药物代谢酶多态性研究
Kanyarat Khaeso,Nontaya Nakkam,Patcharee Komwilaisak et al.
Kanyarat Khaeso et al.
Genetic polymorphisms of thiopurine S-methyltransferase (TPMT) and nucleoside diphosphate-linked moiety X-type motif 15 ( NUDT15 ) genes have been proposed as key determinants of 6-mercaptopurine (6-MP)-induced myelosuppression in pediatric...
Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum [0.03%]
东亚印度杜氏肌营养不良表型患者下一代测序的诊断产出和突变类型分析
Gayatri Nerakh,Prajnya Ranganath,Sakthivel Murugan
Gayatri Nerakh
Multiplex ligation-dependent probe amplification (MLPA) detects exonic deletions and duplications in the DMD gene in around 65 to 70% of patients with the Duchenne muscular dystrophy (DMD) phenotype. This study looks at the diagnostic yield...
Growth Patterns of Thai Children with Down Syndrome from Birth to 5 Years [0.03%]
泰国唐氏综合征儿童从出生到五岁的生长模式
Naiyana Boontan,Kitiwan Rojnueangnit
Naiyana Boontan
Specific growth charts for children with Down syndrome (DS) have been developed in several countries, but not in Thailand. This pilot study aims to develop growth patterns for Thai children with DS, which will help clinicians to improve ass...
Association between rs1421085 and rs9939609 Polymorphisms of Fat Mass and Obesity-Associated Gene with High-Density Lipoprotein Cholesterol and Triglyceride in Obese Turkish Children and Adolescents [0.03%]
肥胖相关基因多态性与土耳其肥胖儿童和青少年高密度脂蛋白胆固醇和甘油三酯的关联研究
Nihal Inandiklioğlu,Adem Yaşar
Nihal Inandiklioğlu
Several studies have shown that rs9939609 and rs1421085 in fat mass and obesity-associated ( FTO ) gene rs17782313 and rs12970134 in melanocortin-4 receptor ( MC4R ) gene influence obesity. In the present study, we aimed to determine associ...
Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges [0.03%]
常染色体隐性多囊肾病：临床特点与诊断挑战
Dorota Wicher,Łukasz Obrycki,Irena Jankowska
Dorota Wicher
Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). Clinical featu...
A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum [0.03%]
SLC12A6基因的新型剪切位点变异导致不合并胼胝体缺失的安德曼综合征
Naema Al Shibli,Almundher Al-Maawali,Alaa Elmanzalawy et al.
Naema Al Shibli et al.
Andermann syndrome, otherwise known as agenesis of the corpus callosum with peripheral neuropathy (ACCPN), is an autosomal recessive motor and sensory neuropathy known to be associated with ACC and mild-to-moderate intellectual disability. ...