ArticleAnnals of clinical and translational neurology2014
Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.
Article in Annals of clinical and translational neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The trial behind it
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Who cites it
9 citing papers in PubMed.
- Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.The Journal of clinical investigation · 2025Article
- Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in theFrontiers in pediatrics · 2024Article
- CRLF1 and CLCF1 in Development, Health and Disease.International journal of molecular sciences · 2022Review
- The sympathies of the body: functional organization and neuronal differentiation in the peripheral sympathetic nervous system.Cell and tissue research · 2021Review
- Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.Neurology. Genetics · 2021Article
- Contribution of Skin Biopsy in Peripheral Neuropathies.Brain sciences · 2020Review
- The diversity of neuronal phenotypes in rodent and human autonomic ganglia.Cell and tissue research · 2020Review
- Hereditary Sensory and Autonomic Neuropathy 2B Caused by a NovelFrontiers in genetics · 2019Article
- Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.Molecular syndromology · 2016Review
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
A woman was isozygous for a novel mutation in the leukemia inhibitory factor receptor gene (LIFR) (c.2170C>G; p.Pro724Ala) which disrupts LIFR downstream signaling and results in Stüve-Wiedemann syndrome (STWS). She inherited two identical chromosomes 5 from her mother, heterozygous for the LIFR mutation. The presentation was typical for STWS, except there was no long bone dysplasia. Prominent cold-induced sweating and heat intolerance lead to an initial diagnosis of cold-induced sweating syndrome, excluded by exome sequencing. Skin biopsies provide the first human evidence of failed postnatal cholinergic differentiation of sympathetic neurons innervating sweat glands in cold-induced sweating, and of a neuropathy.
Identifiers
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Registered trials
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