Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay [0.03%]
用于北印度332名发育迟缓儿童MLPA严重度评分截断值及其诊断效能分析
Priyanka Srivastava,Parminder Kaur,Roshan Daniel et al.
Priyanka Srivastava et al.
Chromosomal aberrations/rearrangements are the most common cause of intellectual disability (ID), developmental delay (DD), and congenital malformations. Traditionally, karyotyping has been the investigation of choice in such cases, with th...
Frameshift Variant in ARID2 in a Chilean Individual with Coffin-Siris Syndrome Phenotype [0.03%]
ARID2 frameshift变异引起的科芬-西里综合征型小头畸形-指(趾)甲发育不全综合症病例报告
Fernanda Martin Merlez,María González Zalazar,Silvia Castillo Taucher
Fernanda Martin Merlez
Coffin-Siris syndrome (CSS) is one of the several causes of intellectual disability (ID) and, since its first description, has posed diagnostic challenges given its variability and phenotypic overlap with other alterations of chromatin-remo...
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil [0.03%]
东北巴西公共卫生服务机构中智力残疾患者的遗传病因识别经验报告
Acacia Fernandes Lacerda de Carvalho,Esmeralda Santos Alves,Paula Monique Leite Pitanga et al.
Acacia Fernandes Lacerda de Carvalho et al.
Intellectual disability (ID) is considered a common neuropsychiatric disorder that affects up to 3% of the population. The etiologic origin of ID may be genetic, environmental, and multifactorial. Chromosomopathies are relatively common amo...
Compound Heterozygous ROBO3 Mutation in Two Siblings Presenting with Horizontal Gaze Palsy without Scoliosis: Case-Based Review [0.03%]
两个兄弟姐妹出现水平凝视麻痹但无侧弯的复合杂合ROBO3突变病例及综述
Adnan Deniz,Sinan Çomu,Mesut Güngör et al.
Adnan Deniz et al.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessively inherited disorder characterized by a congenital absence of conjugated horizontal eye movements with progressive scoliosis developing in childhood and...
Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature [0.03%]
遗传性寻常鱼鳞病伴听力下降的四型CHARCOT-MARIE-TOOTH病家系及文献复习
Monika Chhajed,Pradeep Kumar Gunasekaran,Singanamalla Bhanudeep et al.
Monika Chhajed et al.
A 3-year-old boy, firstborn to nonconsanguineous parents, presented with motor development delay and floppiness of bilateral lower limbs since birth. No significant family history presented at time of check-up. He could stand with support, ...
A Novel Mutation Diagnosing in Allan-Herndon-Dudley's Syndrome [0.03%]
一个新的突变导致的Allan-Herndon-Dudley综合症 diagnostics
Rojan Ipek,Sevcan Tug Bozdogan,Mustafa Kömür et al.
Rojan Ipek et al.
Allan-Herndon-Dudley's syndrome (AHDS) is a rare X-linked recessive disease that causes abnormal serum thyroid function tests, severe hypotonia, intellectual disability, and motor deficit due to a mutation in the monocarboxylate transporter...
Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population [0.03%]
维生素D依赖性佝偻病1A型的一种低效CYP27B1变异在非洲人群中的频率较高的两项研究
Joana de Brito Chagas,Carolina Cordinhã,Carmen do Carmo et al.
Joana de Brito Chagas et al.
Vitamin D-dependent type 1A rickets (VDDR-1A) is a rare autosomal recessive disease due to the inability to convert 25-hydroxyvitamin D [25(OH)D] to the active form 1.25-dihydroxyvitamin D [1.25(OH) 2 D] by the enzyme 25(OH)D-1α-hydroxylas...
Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 ( TRPM6 ) Gene [0.03%]
TRPM6基因新突变导致的低镁血症合并继发性低甲状旁腺素血症及低钙血症
Geetanjali Jain,Gourab Das,Rakhi Malhotra et al.
Geetanjali Jain et al.
HOMG1 (hypomagnesemia 1, intestinal) or hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder of magnesium metabolism, characterized by impaired magnesium absorption. This disorder may mimic other conditions pres...
Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients [0.03%]
四种患者的系列研究：酮体生成先天性错误的新型变异、临床表现及随访状况
Haseena Sait,Somya Srivastava,Somesh Kumar et al.
Haseena Sait et al.
Inborn errors of ketogenesis are rare disorders that result in acute and fulminant decompensation during lipolytic stress, particularly in infants and children. These include mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase (...