Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.

Yu, Qiu-Xia; Zhen, Li; Lin, Xiao-Mei; Wen, Yun-Jing; Li, Dong-Zhi

Yu, Qiu-Xia; Zhen, Li; Lin, Xiao-Mei; Wen, Yun-Jing; Li, Dong-Zhi.

Afiliación

Yu QX; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Zhen L; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Lin XM; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Wen YJ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

Prenat Diagn ; 43(13): 1662-1665, 2023 12.

Article en En | MEDLINE | ID: mdl-37936555

Asunto(s)

Cardiopatías Congénitas; Síndrome de Noonan; Lactante; Embarazo; Femenino; Humanos; Síndrome de Noonan/diagnóstico por imagen; Síndrome de Noonan/genética; Medida de Translucencia Nucal; Cardiopatías Congénitas/diagnóstico por imagen; Cardiopatías Congénitas/genética; Diagnóstico Prenatal; Ultrasonografía Prenatal; Factores de Transcripción/genética

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Cardiopatías Congénitas / Síndrome de Noonan Límite: Female / Humans / Infant / Pregnancy Idioma: En Revista: Prenat Diagn Año: 2023 Tipo del documento: Article País de afiliación: China

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