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.
| Autor: | 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. |
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| Jazyk: | angličtina |
| Zdroj: | JAAD case reports [JAAD Case Rep] 2021 Aug 14; Vol. 16, pp. 5-8. Date of Electronic Publication: 2021 Aug 14 (Print Publication: 2021). |
| DOI: | 10.1016/j.jdcr.2021.08.011 |
| Abstrakt: | Competing Interests: None disclosed. |
| Databáze: | MEDLINE |
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