Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam [0.03%]
在越南通过检测新型COL7A1基因突变进行DEB的胚胎植入前遗传学诊断
Sang Trieutien,Tam Vu Van,My Tran Ngoc Thao et al.
Sang Trieutien et al.
Background: Epidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma. The disease manifests with noticeable symptoms ranging from mild to seve...
Anne Marie Jelsig,Anna Byrjalsen,Majbritt Busk Madsen et al.
Anne Marie Jelsig et al.
Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes r...
Connie H Miller
Connie H Miller
Hemophilia B (HB) is a bleeding disorder caused by deficiency of or defect in blood coagulation factor IX (FIX) inherited in an X-linked manner. It results from one of over 1000 known pathogenic variants in the FIX gene, F9; missense and fr...
Nikoletta Nagy,Anna Dubois,Marta Szell et al.
Nikoletta Nagy et al.
CYLD cutaneous syndrome (CCS) is an inclusive label for the inherited skin adnexal tumour syndromes Brooke-Spiegler Syndrome (BSS-OMIM 605041), familial cylindromatosis (FC - OMIM 132700) and multiple familial trichoepitheliomas (MFT-OMIM 6...
Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population [0.03%]
骨桥蛋白基因多态性rs1126616 C>T和rs1126772 A>G与波兰人群的特应性皮炎有关
Beata Kaleta,Mieszko Lachota,Jacek Łukaszkiewicz et al.
Beata Kaleta et al.
Purpose: Atopic dermatitis (AD) is a chronic, relapsing inflammatory disease, caused by environmental and genetic factors, which lead to immunological abnormalities. Osteopontin (OPN), also named secreted phosphoprotein 1...
A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report [0.03%]
Kabuki综合征的新型内含子KMT2D变异一例报告
Erica Aristizábal,Lorena Diaz-Ordóñez,Estephania Candelo et al.
Erica Aristizábal et al.
Kabuki syndrome (KS) is an autosomal dominant genetic disorder in which most cases are caused by de novo mutations. KS type 1 is caused by mutations in KMT2D (OMIM: #147920) and is more common. KS type 2 is caused by mutations in KDM6A (OMI...
Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy [0.03%]
杜氏肌营养不良症哥伦比亚患者的基因特征显示新的突变
Paula Triana-Fonseca,Juan Fernando Parada-Márquez,Claudia T Silva-Aldana et al.
Paula Triana-Fonseca et al.
Background: Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common human dystrophinopathies with recessive X-linked inheritance. Dystrophin gene deletions and duplications are the most common mutations, fo...
Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study [0.03%]
MAP2K1基因致病变异导致III型心脏-面-皮肤综合症男孩的喉科学，听力学，牙齿和语言问题的病例研究
Bożena Kosztyła-Hojna,Jan Borys,Maciej Zdrojkowski et al.
Bożena Kosztyła-Hojna et al.
Cardio-facio-cutaneous syndrome 3 (CFC3) due to variants in MAP2K1 is a rare genetic disorder manifested mainly by short stature, facial dysmorphism, abnormalities of the cardiovascular system, skin changes, and intellectual disability. The...
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives [0.03%]
Wiskott-Aldrich综合征的自身免疫性：更新的观点
Murugan Sudhakar,Rashmi Rikhi,Sathish Kumar Loganathan et al.
Murugan Sudhakar et al.
Wiskott-Aldrich syndrome (WAS) is an uncommon X-linked combined-immunodeficiency disorder characterized by a triad of thrombocytopenia, eczema, and immunodeficiency. Patients with WAS are also predisposed to autoimmunity and malignancy. Aut...
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease [0.03%]
赫姆奇约玛顿第二至第四型的临床基因检测及铁输出蛋白病遗传咨询适宜性探究
Devan S Kowdley,Kris V Kowdley
Devan S Kowdley
Hereditary hemochromatosis (HH) is an inherited iron overload disorder due to a deficiency of hepcidin, or a failure of hepcidin to degrade ferroportin. The most common form of HH, Type 1 HH, is most commonly due to a homozygous C282Y mutat...