ArticleGlobal medical genetics2025
A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.
Article in Global medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a heterogeneous group of symptoms, including characteristic cafe-au-lait macules, axillary or inguinal freckling, Lisch nodules, as well as skeletal deformation, scoliosis, mental retardation, and tumors of the nervous system. Klinefelter syndrome (KS) is a gonadal dysgenesis, with symptoms in males, including an extra X chromosome, leading to tall stature, hypogonadism, and infertility
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