Utku Aygünes,Melih Timucin Dogan,Avni Merter Keceli
Utku Aygünes
PHACE syndrome is an acronym that describes a neurocutaneous condition, consisting of posterior fossa malformations that coexist with large facial hemangiomas, eye anomalies, and cardiac/aortic defects. The prognosis of the disease has not ...
Biallelic Mutation of SETX and Additional Likely "In Cis" SETX Sequence Change in Ataxia with Oculomotor Apraxia Type 2 [0.03%]
SETX基因双等位基因突变以及第二种可能的“顺式”SETX序列变化在第2型共济失调伴眼外肌麻痹中的作用
Michael D Perry,Martin J Evans,Philip J Byrd et al.
Michael D Perry et al.
Ataxia with oculomotor apraxia type 2 (AOA2) is a slowly progressive, autosomal recessive disease characterized by the triad of ataxia, oculomotor apraxia, and sensorimotor neuropathy. The genetic basis of AOA2 is biallelic mutation of the ...
Treatable Hereditary Manganese Transport Disorder: Novel SLC30A10 Mutation and its Characteristic Neuroimaging Appearance in Two Siblings [0.03%]
可治疗的遗传性锰转运障碍：两名兄弟中的SLC30A10新突变及其特征性的神经影像表现
Senthilvelan Santhakumar,Jospaul Lukas,Gopikrishnan Unnikrishnan et al.
Senthilvelan Santhakumar et al.
Hypermanganesemia with dystonia and polycythemia along with liver cirrhosis is a rare syndromic complex that is associated with a characteristic genetic mutation and a typical appearance in the T1-weighted noncontrast image. In this article...
Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India [0.03%]
诊断乃仁者见仁：印度儿童黏多糖贮积症早期诊断的障碍
Meenu Grewal,Mamta Muranjan
Meenu Grewal
The present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician range...
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders [0.03%]
神经影像与CNVs数据相关性分析：七年神经发育障碍患者细胞基因组微阵列分析
Roberta Milone,Claudia Cesario,Marina Goldoni et al.
Roberta Milone et al.
The aim of this study was to evaluate the relationship between neurodevelopmental disorders, brain anomalies, and copy number variations (CNVs) and to estimate the diagnostic potential of cytogenomical microarray analysis (CMA) in individua...
Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth [0.03%]
特发性身材矮小的全外显子测序：影响生长的罕见突变
Shahab Noorian,Nami Mohammadian Khonsari,Shahram Savad et al.
Shahab Noorian et al.
Idiopathic short stature (ISS) is a common diagnosis of exclusion in patients with short stature (SS). In this article, we aimed to identify the genetic causes of SS in patients with ISS and investigate treatment options. Fourteen children ...
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population [0.03%]
印度人群的结节性硬化症患者的突变谱分析
Shruthi Sudarshan,Atin Kumar,Arun Gupta et al.
Shruthi Sudarshan et al.
Tuberous sclerosis complex (TSC) is a multiorgan disorder characterized by formation of hamartomas and broad phenotypic spectrum including seizures, mental retardation, renal dysfunction, skin manifestations and brain tubers. It is inherite...
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India [0.03%]
神经脂质沉积病：南印度三级护理中心儿童的临床和实验室特征
Vykuntaraju K Gowda,Hemadri Vegda,Kiruthiga Sugumar et al.
Vykuntaraju K Gowda et al.
Neuronal ceroid Lipofuscinosis (NCL), inherited disorders of lysosomal storage disorders, constitute the most common progressive encephalopathies with an incidence of 1.3 to 7 in 100,000 live births. We reported clinical, electrophysiologic...
A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement [0.03%]
进行性四瘫伴尿便障碍和胼胝体受累中的新发BSCL2基因S90L突变
Joana Ramos-Lopes,Joana Ribeiro,Mário Laço et al.
Joana Ramos-Lopes et al.
A Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 ( BSCL2...
The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion [0.03%]
9号染色体短臂缺失患儿的自闭症谱系障碍诊断困境
Brendan E Karba,Jean-Francois Lemay,Scott A McLeod
Brendan E Karba
We reported on a 3-year-old girl child patient with the presence of trigonocephaly, broad nasal bridge, flattened occiput, and midface hypoplasia. Formal assessment of her development profile demonstrated expressive and receptive language d...