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Published in 2022 at "Molecular Genetics & Genomic Medicine"
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…
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Keywords:
using exome;
syndrome using;
identifying patients;
plus syndrome ... See more keywords
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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…
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Keywords:
coats plus;
prematurity;
pathology;
plus syndrome ... See more keywords
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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…
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Keywords:
spasticity;
newly described;
plus syndrome;
described spasticity ... See more keywords
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Published in 2020 at "Pediatric Dermatology"
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,…
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Keywords:
syndrome cerebroretinal;
coats plus;
plus syndrome;
microangiopathy calcifications ... See more keywords
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Published in 2023 at "International journal of surgical pathology"
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…
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Keywords:
germline;
plus syndrome;
pdgfra exon;
phenotypic manifestations ... See more keywords