Rabson Mendenhall Syndrome caused by a novel 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 کاملRenal manifestations of severe Rabson-Mendenhall syndrome: a case report
INTRODUCTION Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. CASE PRESENTATION We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephrome...
متن کاملrabson-mendenhall syndrome: a case report
rabson-mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. herein, we described a 10- year-old girl with physical f...
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 کاملA Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome
To the Editor Cardiofaciocutaneous syndrome (CFC) is a multiple congenital anomaly syndrome characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay[1]. CFC is caused by mutations in BRAF, MEK1, MEK2, KRAS genes encoding proteins of the RAS/MAPK signaling pathway. In more than 70% of CFC patients, BRAF mutations are detected[2]. We present here a 10...
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: International Journal of Pediatric Endocrinology
سال: 2016
ISSN: 1687-9856
DOI: 10.1186/s13633-016-0039-1