36 citations
,
July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
15 citations
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August 2021 in “Reviews in endocrine and metabolic disorders” This review discusses hypopituitarism's bidirectional relationship with COVID-19 due to metabolic comorbidities and pituitary risks, but it reports no new clinical results.
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.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
September 2024 in “Egyptian Journal of Medical Human Genetics” This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.