Myhre综合症(Myhre Syndrome)基因检测在疾病预防诊断中的角色 Myhre综合症是一种罕见的遗传性疾病,主要特征包括面部特征异常、心脏病变、骨骼异常和智力发育迟缓等。这种疾病是由于FBN1基因突变引起的,FBN1基因编码的蛋白质在结缔组织中起着重要作用。基因检测在Myhre综合症的预防和诊断中发挥着重要的作用。 首先,基因...
Myhre syndrome (MIM 139210) is a rare autosomal-dominant disorder characterised by short stature, brachydactyly, facial dysmorphism (short palpebral fissures, prognathism and short philtrum), developmental delay with mental retardation or/and behavioural troubles, progressive deafness of mixed conductive ...
Myhre syndrome的数据库代码 根据《人的基因序列变化与人体疾病表征》,Myhre综合征的数据库编码是omim_id:139210 hpo_id:HP:0000028;ICD编码是Q87.8 做Myhre综合征基因解码、基因检测需要多少钱? 请致电4001601189,访问jiaxuejiyin.com,让基因解码师和遗传咨询师为您提供量身定做的项目,省钱、有效、管用。
Myhre syndrome; recurrent pericarditis; anakinra; SMAD 4 Abstract Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body bu...
Myhre Syndromedoi:10.1007/978-1-4020-6754-9_11099dwarfismSpringer NetherlandsEncyclopedia of Genetics Genomics Proteomics & Informatics
yhre-Smith syndrome Ruvalcaba-Myhre-Smith syndromeRuvalcaba-Myhre-Smith syndromeBannayan-Riley-Ruvalcabasyndromedoi:10.1007/3-540-29668-9_2379N. LevineC. C. LevineJ. Pedraza-Chaverri´, D. Barrera, P.D. Maldonado, Y.I. Chirino, N.A. Maci´as-Ruval- caba, O.N. Medina-Campos, S-...
The present invention relates to methods for diagnosing and treating Myhre Syndrome. The invention provides a method for diagnosing or predicting Myhre Syndrome, or a risk of Myhre Syndrome, in a subject, which method comprises detecting... CORMIER-DAIRE Valérie,LE GOFF Carine,MUNNICH Arnold - WO...
Myhre syndrome: Case reportdoi:10.1016/j.medcle.2024.07.020Juan de Dios García DíazJavier Balsa VázquezMedicina Clínica (English Edition)
Besides, Myhre syndrome involves cardiovascular, respiratory, gastrointesintal and skin systems. Herein, we report two new paediatric cases of Myhre syndrome caused by de novo SMAD4 pathogenic variants associated with mid-aortic syndrome.Laia Brunet-Garcia...
Novel SMAD4 mutation causing Myhre syndromeMyhre syndrome (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized by developmental and growth delay, athletic muscular built, variable cognitive deficits, skeletal anomalies, sti ...Myhre syndromeathletic muscular builtvariable cognitive deficits...