Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report
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DOI: 10.1002/mgg3.2039
Abstract: The EVEN‐plus syndrome (epiphyseal–vertebral–ear–nose dysplasia plus associated findings) is an extremely rare autosomal recessive inherited disease characterised by specific facial features and skeletal dysplasia. It has a prenatal onset due to defects in the HSPA9… read more here.
Keywords: using exome; syndrome using; identifying patients; plus syndrome ... See more keywords
Coats plus in prematurity
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2051193
Abstract: ABSTRACT Background Coats plus syndrome or cerebroretinal microangiopathy with calcifications and cysts (CMCC) is an exceedingly rare autosomal recessive disorder that predominantly affects the microvasculature in the retina, brain, bones, and gastrointestinal system. Unlike Coats… read more here.
Keywords: coats plus; prematurity; pathology; plus syndrome ... See more keywords
A real‐world evidence study of nabiximols in multiple sclerosis patients with resistant spasticity: Analysis in relation to the newly described ‘spasticity‐plus syndrome’
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15412
Abstract: Nabiximols is a therapeutic option for patients with multiple sclerosis (MS) spasticity whose symptoms are poorly controlled by conventional oral first‐line medications. This study aimed to assess the relationship between changes in spasticity severity (measured… read more here.
Keywords: spasticity; newly described; plus syndrome; described spasticity ... See more keywords
Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts‐1): A case report
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DOI: 10.1111/pde.14366
Abstract: We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy,… read more here.
Keywords: syndrome cerebroretinal; coats plus; plus syndrome; microangiopathy calcifications ... See more keywords
A Rare PDGFRA Exon 15 Germline Mutation Identified in a Patient With Phenotypic Manifestations Concerning for GIST-Plus Syndrome: A Case Report and Review of Literature.
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DOI: 10.1177/10668969231152588
Abstract: Molecular alterations in PDGFRA are well-described as drivers of sporadic gastrointestinal stromal tumors (GISTs) and inflammatory fibroid polyps (IFPs). However, a small number of families with germline PDGFRA mutations in exons 12, 14, and 18… read more here.
Keywords: germline; plus syndrome; pdgfra exon; phenotypic manifestations ... See more keywords