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Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

机译：由FAM111B突变引起的肌腱挛缩肌病和肺纤维化的遗传性纤维化鬼臼皮瘤的扩展表型：另一个家庭提出了癌症易感性问题的报告并对早期发作的鬼臼皮炎做了简短回顾

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期刊名称 JAAD Case Reports
作者
Raphaëlle Goussot; Megana Prasad; Corinne Stoetzel; Cédric Lenormand; Hélène Dollfus; Dan Lipsker;
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年(卷),期 2017(3),2
年度 2017
页码 143–150
总页数 8
原文格式 PDF
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外文文献

1. Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation [J] . Zhang Zhen, Zhang Jia, Chen Fuying, The Journal of dermatology . 2019,第11期

机译：遗传性纤维家族纤维粘接性Poikiloderma与肌腱挛缩，肌肉疗法和肺纤维化引起的新的FAM111B突变引起
2. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations [J] . Sandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, Orphanet journal of rare diseases . 2015,第S1期

机译：由于FAM111B突变而导致肌腱挛缩，肌病和肺纤维化的遗传性纤维化鬼臼皮病的临床范围扩大
3. Mutations in FAM111b cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis [J] . MercierS., KüryS., ShaboodienG., The American Journal of Human Genetics . 2013,第6期

机译：FAM111b的突变会导致遗传性纤维化鬼臼皮炎，并伴有肌腱挛缩，肌病和肺纤维化
4. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis due to FAM111B mutations [O] . Sandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, 2015

机译：由于FAM111B突变而导致肌腱挛缩肌病和肺纤维化的遗传性纤维化鬼臼皮病的临床应用
5. Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma [O] . Raphaëlle Goussot, MD, Megana Prasad, MD, Corinne Stoetzel, MD, 2017

机译：扩大Fam111B突变引起的肌腱挛缩，肌病和肺纤维化的遗传性纤维化皮肤病的表型：提出癌症易感性问题的另一个家庭的报告和早发性皮肤病的简短回顾

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

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