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.

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

Doanh, Le Huu; Phuong, Hoang Thi; Phuong, Nguyen Thi Thu; Thu, Le Thi Hoai; Thuong, Nguyen Van.

Afiliación

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

JAAD Case Rep ; 16: 5-8, 2021 Oct.

Article en En | MEDLINE | ID: mdl-34504925

Palabras clave

LMNA variant; MAD, mandibuloacral dysplasia; MADA, mandibuloacral dysplasia type A; MADB, mandibuloacral dysplasia type B; mandibuloacral dysplasia; progeria

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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: JAAD Case Rep Año: 2021 Tipo del documento: Article País de afiliación: Vietnam

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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: JAAD Case Rep Año: 2021 Tipo del documento: Article País de afiliación: Vietnam