Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report
Sign Up to like & getrecommendations! 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… read more here.
Keywords: using exome; syndrome using; identifying patients; plus syndrome ... See more keywords
Duplicated pituitary gland plus syndrome with thoracoabdominal findings suggesting abnormal axial mesodermal signaling and ciliopathy
Sign Up to like & getrecommendations! Published in 2025 at "Pediatric Radiology"
DOI: 10.1007/s00247-025-06281-8
Abstract: Duplication of the pituitary gland is a rare anomaly with variable associated craniofacial malformations (duplicated pituitary gland plus syndrome). Thus far, malformations have only been reported in the craniofacial structures, central nervous system (CNS), and… read more here.
Keywords: gland plus; plus syndrome; duplicated pituitary; syndrome thoracoabdominal ... See more keywords
The use of genistein and ambroxol may be an effective approach in correcting cellular dysfunctions of mucopolysaccharidosis-plus syndrome
Sign Up to like & getrecommendations! Published in 2025 at "Mammalian Genome"
DOI: 10.1007/s00335-025-10176-2
Abstract: Mucopolysaccharidosis-plus syndrome (MPS plus or MPSPS) is an ultrarare inherited metabolic disease, caused by mutations in the VPS33A gene. Like in different types of mucopolysaccharidosis (MPS), glycosaminoglycan (GAG) storage in cells of patients is evident.… read more here.
Keywords: genistein ambroxol; plus syndrome; mucopolysaccharidosis plus; mucopolysaccharidosis ... See more keywords
Coats plus in prematurity
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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
Sign Up to like & getrecommendations! 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,… 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.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: germline; plus syndrome; pdgfra exon; phenotypic manifestations ... See more keywords
Practical tool to identify Spasticity-Plus Syndrome amongst patients with multiple sclerosis. Algorithm development based on a conjoint analysis
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DOI: 10.3389/fneur.2024.1371644
Abstract: Introduction The Spasticity-Plus Syndrome (SPS) in multiple sclerosis (MS) refers to a combination of spasticity and other signs/symptoms such as spasms, cramps, bladder dysfunction, tremor, sleep disorder, pain, and fatigue. The main purpose is to… read more here.
Keywords: plus syndrome; spasticity plus; tool; sps ... See more keywords
Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?
Sign Up to like & getrecommendations! Published in 2024 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms25179570
Abstract: Several years ago, dozens of cases were described in patients with symptoms very similar to mucopolysaccharidosis (MPS). This new disease entity was described as mucopolysaccharidosis-plus syndrome (MPSPS). The name of the disease indicates that in… read more here.
Keywords: plus syndrome; disease; syndrome type; mpsps ... See more keywords