Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by <i>LMNA</i> p.G465D mutation: a first clinical characterization and two-year follow-up.

Vu, Nhung Phuong; Tran, Hai Thi; Vu, Nga Bich; Ma, Thuong Thi Huyen; Nguyen, Ton Dang; Nong, Hai Van; Nguyen, Ha Hai

Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up.

Vu, Nhung Phuong; Tran, Hai Thi; Vu, Nga Bich; Ma, Thuong Thi Huyen; Nguyen, Ton Dang; Nong, Hai Van; Nguyen, Ha Hai.

Afiliação

Vu NP; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
Tran HT; Hanoi Medical University Hospital, Hanoi Medical University, Hanoi, Vietnam.
Vu NB; Hanoi Medical University Hospital, Hanoi Medical University, Hanoi, Vietnam.
Ma TTH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
Nguyen TD; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
Nong HV; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
Nguyen HH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.

J Pediatr Endocrinol Metab ; 35(9): 1206-1210, 2022 Sep 27.

Article em En | MEDLINE | ID: mdl-35822709

Assuntos

Lipodistrofia Parcial Familiar; Lipodistrofia; Tecido Adiposo/metabolismo; Povo Asiático; Feminino; Seguimentos; Humanos; Lamina Tipo A/genética; Lipodistrofia/genética; Lipodistrofia Parcial Familiar/complicações; Lipodistrofia Parcial Familiar/diagnóstico; Lipodistrofia Parcial Familiar/genética; Mutação

Palavras-chave

LMNA; familial partial lipodystrophy; whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Lipodistrofia Parcial Familiar / Lipodistrofia Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: J Pediatr Endocrinol Metab Assunto da revista: ENDOCRINOLOGIA / PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Vietnã

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