Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation
نویسندگان
چکیده
منابع مشابه
Rabson Mendenhall Syndrome caused by a novel missense mutation
BACKGROUND Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary appro...
متن کاملHereditary brachydactyly associated with hypertension.
A family showing brachydactyly associated with hypertension is reported. The number and location of the involved bones are quite different from the other cases with brachydactyly reported in the literature. Additionally, all our patients have high blood pressure. We believe that the disorder reported here represents a hitherto undescribed entity. It is thought that both hypertension and brachyd...
متن کاملA heterozygous missense SCN5A mutation associated with early repolarization syndrome.
The genetic background of early repolarization syndrome (ERS) has not been fully understood. In this study, we identified a missense SCN5A mutation and a polymorphism in a patient with ERS and characterized the functional consequences of the two variants. The functional consequences of mutant channels were investigated with the patch-clamp technique, immunocytochemical studies and real-time PCR...
متن کاملVertebral artery injury during anterior cervical vertebral surgery caused by transverse foramen malformation-appendix: case report and literature review
One male patient at 59 years old of age was diagnosed as cervical myelopathy for unsteady gait and stiff lower limbs, followed by cervical 3/4 and 5/6 discectomy plus bone grafting and internal fixation, when processing the superior endplate of left cervical 4 disk, a large number of arterial bleeding occurred, which was stopped by packing method, and followed by continued cervical discectomy p...
متن کاملHydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome characterized by multiple developmental defects of fetus. We have earlier mapped and restricted the HLS region to a critical 1 cM interval on 11q23-25. The linkage disequilibrium (LD) and haplotype analyses of single nucleotide polymorphism (SNP) markers helped to further restrict the HLS locus to 476 kb between...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Hypertension
سال: 2019
ISSN: 0895-7061,1941-7225
DOI: 10.1093/ajh/hpz151