يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"MADA, mandibuloacral dysplasia type A"', وقت الاستعلام: 0.85s تنقيح النتائج
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    Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions

    المؤلفون: Hoang Thi Phuong, Le Huu Doanh, Nguyen Van Thuong, Nguyen Thi Thu Phuong, Le Thi Hoai Thu

    المصدر: JAAD Case Reports, Vol 16, Iss, Pp 5-8 (2021)
    JAAD Case Reports

    مصطلحات موضوعية: medicine.medical_specialty, Vietnamese, media_common.quotation_subject, MADA, mandibuloacral dysplasia type A, MADB, mandibuloacral dysplasia type B, Case Report, Dermatology, LMNA, MAD, mandibuloacral dysplasia, medicine, Missense mutation, Girl, Gene, media_common, Progeria, business.industry, progeria, medicine.disease, language.human_language, Mandibuloacral dysplasia, RL1-803, language, Skin lesion, business, LMNA variant, mandibuloacral dysplasia

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::556980818e5f673f8d82c347e70a5b86
    http://www.sciencedirect.com/science/article/pii/S2352512621005695

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    تقرير
    Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions.

    المؤلفون: Doanh LH; Hanoi Medical University, Hanoi, Vietnam.; Viet Nam National Hospital of Dermatology and Venereology, Hanoi, Vietnam., Phuong HT; Viet Nam National Hospital of Dermatology and Venereology, Hanoi, Vietnam., Phuong NTT; Hanoi Medical University, Hanoi, Vietnam., Thu LTH; Viet Nam National Hospital of Dermatology and Venereology, Hanoi, Vietnam., Thuong NV; Hanoi Medical University, Hanoi, Vietnam.; Viet Nam National Hospital of Dermatology and Venereology, Hanoi, Vietnam.

    المصدر: JAAD case reports [JAAD Case Rep] 2021 Aug 14; Vol. 16, pp. 5-8. Date of Electronic Publication: 2021 Aug 14 (Print Publication: 2021).

    نوع المنشور: Case Reports

    بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101665210 Publication Model: eCollection Cited Medium: Print ISSN: 2352-5126 (Print) Linking ISSN: 23525126 NLM ISO Abbreviation: JAAD Case Rep Subsets: PubMed not MEDLINE

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