January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This case report describes an 8-year-old boy with neurofibromatosis type one presenting with the rare conditions of trichothiodystrophy and retinal atrophy.
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.
15 citations
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March 2024 in “Journal of Clinical Medicine” In this four-year study, pediatric patients with inoperable plexiform neurofibromas and type 1 neurofibromatosis treated with selumetinib frequently experienced dermatologic side effects, which required tailored management strategies and sometimes led to treatment suspension, potentially affecting tumor regrowth.
December 2014 in “Endocrinología y nutrición” The woman's rare combination of diseases suggests an unknown factor may predispose individuals to multiple endocrine diseases.
1 citations
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November 2016 in “Congenital Anomalies” This review examines the impact of biotin, vitamin B12, and zinc on male reproduction, emphasizing their role in spermatogenic failure, but reports no new clinical results.