[Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome].

Hu, Gang; Liu, Bei; Chen, Min; Qian, Yeqing; Dong, Minyue

Hu, Gang; Liu, Bei; Chen, Min; Qian, Yeqing; Dong, Minyue.

Afiliação

Hu G; Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.
Liu B; Department of Gynecology and Obstetrics, Huzhou Maternity&Child Health Care Hospital, Huzhou 313000, Zhejiang Province, China.
Chen M; Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.
Qian Y; Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.
Dong M; Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.

Zhejiang Da Xue Xue Bao Yi Xue Ban ; 49(5): 581-585, 2020 Oct 25.

Article em Zh | MEDLINE | ID: mdl-33210483

Assuntos

Pestanas/anormalidades; Fatores de Transcrição Forkhead; Linfedema; Feto Abortado/fisiopatologia; Adulto; Pestanas/patologia; Feminino; Fatores de Transcrição Forkhead/genética; Mutação da Fase de Leitura; Humanos; Linfedema/genética; Linfedema/patologia; Masculino; Fenótipo; Gravidez; Sequenciamento do Exoma

Palavras-chave

Autosomal dominant; Genetic diseases, inborn; Hydrops fetalis; Lymphedema-distichiasis syndrome; Nuchal translucency; Whole exome sequencing

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição Forkhead / Pestanas / Linfedema Idioma: Zh Ano de publicação: 2020 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google