Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy
| العنوان: | Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy |
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| المؤلفون: | Maria Nolano, Neil M. Nathanson, Helge Boman, Beth A. Habecker, Angelika F Hahn, Stefan Johansson, Mariarosa A. B. Melone, Per M. Knappskog, Michael J. Pellegrino |
| المساهمون: | Melone, Mariarosa Anna Beatrice, Pellegrino, Michael J, Nolano, Maria, Habecker, Beth A, Johansson, Stefan, Nathanson, Neil M, Knappskog, Per M, Hahn, Angelika F, Boman, Helge, Melone, Mariarosa A. B., Pellegrino, Michael J., Habecker, Beth A., Nathanson, Neil M., Knappskog, Per M., Hahn, Angelika F. |
| المصدر: | Annals of Clinical and Translational Neurology |
| بيانات النشر: | Wiley, 2014. |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, Leukemia inhibitory factor receptor, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Medicine, Exome sequencing, 030304 developmental biology, Isodisomy, 0303 health sciences, Heat intolerance, Mutation, Neuroscience (all), integumentary system, business.industry, General Neuroscience, Chromosome, medicine.disease, 3. Good health, Dysplasia, Cholinergic, Neurology (clinical), medicine.symptom, Brief Communications, business, 030217 neurology & neurosurgery |
| الوصف: | 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. |
| تدمد: | 2328-9503 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22f8b21975595694f516f570545fbb8c https://doi.org/10.1002/acn3.126 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....22f8b21975595694f516f570545fbb8c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23289503 |
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