Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss [0.03%]
与白细胞黏附缺陷症Ⅲ和感觉神经性听力损失相关的新型FERMT3及PTPRQ基因突变
Gabriela de Toledo Passos Candelaria,Alexandre de A Antunes,Antonio C Pastorino et al.
Gabriela de Toledo Passos Candelaria et al.
Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integrin activation in hematopoietic cells due to mutations in the FERMT3 gene. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q and...
Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis [0.03%]
伴有听力下降的复发性双侧下运动神经元型面瘫：高磷血症家族性肿瘤样钙质沉着症
Vykuntaraju K Gowda,Anusha Raj,Dhananjaya K Vamyanmane et al.
Vykuntaraju K Gowda et al.
Hyperphosphatemic familial tumoral calcinosis (HFTC) presents with varied neurological manifestations that have been reported in the literature like facial palsy, vision and hearing impairment, stroke, and headache. In this article, we repo...
Infantile Galactosialidosis with Novel Mutation: An Early Presentation [0.03%]
具有新型突变的婴儿型半乳糖神经酰脂质沉积病：早期发病
Sonia Sharma,Shailesh Gupta,A P Mehta et al.
Sonia Sharma et al.
Galactosialidosis (GS) is a rare lysosomal storage disorder. We reported here, the case of a 29-day-old boy who had increased body swelling, difficulty breathing, and petechiae on the trunk since birth. The antenatal history was unremarkabl...
Tripat Kaur,Chenni S Sriram,Priyanka Prasanna et al.
Tripat Kaur et al.
Chromosome 1p36 deletion syndrome is a common genetic anomaly (prevalence: 1 in 5,000-1 in 10,000). Despite reports of cardiovascular involvement, the cardiovascular phenotypic spectrum of patients with 1p36 deletion syndrome is not well ch...
Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy [0.03%]
面肌无力，眼睑下垂和张口困难：RYR1基因突变相关先天性中心核肌病一例报告
Bhanudeep Singanamalla,Shivan Kesavan,Divya Aggarwal et al.
Bhanudeep Singanamalla et al.
Congenital myopathies are an expanding spectrum of neuromuscular disorders with early infantile or childhood onset hypotonia and slowly or nonprogressive skeletal muscle weakness. RYR1 -related myopathies are the most common and frequently ...
CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease [0.03%]
编码思考！STX3的罕见突变导致微绒毛包涵体病
Elizabeth Mary John,Sajina Sathyan,Femitha Pournami et al.
Elizabeth Mary John et al.
Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations [0.03%]
染色体1p36删除症候群：四个具有不同表现的病人
Chakshu Chaudhry,Divya Kumari,Inusha Panigrahi et al.
Chakshu Chaudhry et al.
Chromosome 1p36 deletion accounts for around 1% of cases of intellectual disability. The pattern of clinical features includes developmental delay, hypotonia, seizures, short stature, intellectual disability, vision and hearing deficits, co...
Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature [0.03%]
伴有甲状旁腺功能亢进Wolf-Hirschhorn综合征1例报告及文献回顾性综述
Changqing Xia,Dibyendu Kumar,Bei You et al.
Changqing Xia et al.
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been r...
Genetic Profiling of Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia [0.03%]
B细胞前体急性淋巴细胞白血病儿童患者的基因分型研究
Dilara Fatma Akin-Bali,Beyza Doganay Erdogan,Deniz Aslar Oner et al.
Dilara Fatma Akin-Bali et al.
B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous leukemia subgroup. It has multiple sub-types that are likely to be classified by prognostic factors. Following a systematic literature review, this study analyzed th...
A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1 [0.03%]
COL2A1中两个突变导致的严重的阿尔及利亚型脊柱 metaphyseal发育不良症
Francisco Cammarata-Scalisi,Uta Matysiak,Colin E Willoughby et al.
Francisco Cammarata-Scalisi et al.
Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL2A1 gene (MIM no.: 120140). In this case based review, we reported a 5-year-old bo...