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Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH 期刊论文
发表期刊: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 出版年: 2020, 卷号: 25, 期号: 4, 页码: 423-428
作者:  Boso, Federica;  Zanette, Giampietro;  Baldinotti, Fulvia;  Bertelloni, Silvano;  Taioli, Federica;  Monaco, Salvatore;  Fabrizi, Gian Maria;  Cavallaro, Tiziana
收藏  |  浏览/下载：24/0  |  提交时间：2021/01/07
Desert Hedgehog  gonadal dysgenesia  inherited neuropathy  minifascicular neuropathy  nerve ultrasound  
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 期刊论文
发表期刊: HORMONE RESEARCH IN PAEDIATRICS. 出版年: 2018, 卷号: 89, 期号: 3, 页码: 141-149
作者:  Baldinotti, Fulvia;  Cavallaro, Tiziana;  Dati, Eleonora;  Baroncelli, Giampiero I.;  Bertini, Veronica;  Valetto, Angelo;  Massart, Francesco;  Fabrizi, Gian Maria;  Zanette, Giampietro;  Peroni, Diego;  Bertelloni, Silvano
收藏  |  浏览/下载：16/0  |  提交时间：2019/11/29
Disorders of sex development  Gonadal dysgenesis  Desert hedgehog gene  Peripheral minifascicular neuropathy