February 2013 in “Journal of The American Academy of Dermatology” Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.
10 citations
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October 2009 in “Photomedicine and laser surgery” This study found that intense pulsed light treatment achieved a mean of 85% hair reduction in two patients with faun tail, although local anesthesia may be needed due to severe pain associated with neurological abnormalities.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
13 citations
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February 2024 in “Clinical Epigenetics” In this study, the authors review how epigenetic regulation influences the role of iPSC-derived neural stem/progenitor cells in spinal cord injury therapy, highlighting challenges in the cells' generation, differentiation, and transplantation, and the effect of therapeutic tools on these processes.
29 citations
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June 2020 in “International Journal of Molecular Sciences” This review discusses the role of Notch signaling in skin diseases such as Hidradenitis Suppurativa and Psoriasis, but reports no new clinical results.