Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL
Sign Up to like & getrecommendations! Published in 2019 at "Neurological Sciences"
DOI: 10.1007/s10072-019-03774-x
Abstract: Dear Editor, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary vascular disease characterized by five main neurological manifestations: migraine with aura, recurrent subcortical ischemic infarctions, mood disturbances, apathy, and… read more here.
Keywords: italian family; cadasil; family; form ... See more keywords
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.14101
Abstract: To the Editor, The ultrarare clinical association of Duane retraction syndrome (DRS) with or without deafness and inner ear defects, has been recently related with deleterious variants in MAFB (MIM*608968) and found in few sporadic… read more here.
Keywords: retraction syndrome; inner ear; centile; duane retraction ... See more keywords
Osteogenesis imperfecta and keratoconus in an Italian family
Sign Up to like & getrecommendations! Published in 2018 at "Clinical and Experimental Optometry"
DOI: 10.1111/cxo.12617
Abstract: Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue involving genes encoding the synthesis of type 1 collagen.[1] Its clinical presentation can vary widely and may include blue scleras (Figure 1), bone fractures, the… read more here.
Keywords: imperfecta keratoconus; italian family; osteogenesis imperfecta; osteogenesis ... See more keywords
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric and Developmental Pathology"
DOI: 10.1177/1093526618755200
Abstract: We describe a new Italian family with 7 members affected by hereditary hyperferritinemia cataract syndrome (HHCS), an uncommon autosomal dominant disease caused by mutations of the iron-responsive element (IRE) of the ferritin light chain (FTL)… read more here.
Keywords: italian family; hereditary hyperferritinemia; hyperferritinemia cataract; family ... See more keywords