New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-06792-y.pdf
Reference18 articles.
1. Umehara F, Yamaguchi N, Kodama D, Takenaga S, Kiwaki T, Sonoda Y et al (1999) Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis. Acta Neuropathol 98(3):309–312
2. Umehara F, Tate G, Itoh K, Yamaguchi N, Douchi T, Mitsuya T et al (2000) A novel mutation of desert hedgehog in a patient with 46, XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Am J Hum Genet 67(5):1302–1305
3. Sato NS, Maekawa R, Ishiura H, Mitsui J, Naruse H, Tokushige SI et al (2017) Partial duplication of DHH causes minifascicular neuropathy: a novel mutation detection of DHH. Ann Clin Transl Neurol 4(6):415–421
4. Baldinotti F, Cavallaro T, Dati E, Baroncelli GI, Bertini V, Valetto A et al (2018) Novel familial variant of the desert hedgehog gene: clinical findings in two sisters with 46, XY gonadal dysgenesis or 46, XX karyotype and literature review. Horm Res Paediatr 89(3):141–149
5. Boso F, Zanette G, Baldinotti F, Bertelloni S, Taioli F, Monaco S, et al. (2020) Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH. J Peripher Nerv Syst [Internet]. 25(4):423–8. https://onlinelibrary.wiley.com/doi/10.1111/jns.12417
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