Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.

Zhang, Yong-Ling; Jing, Xiang-Yi; Zhen, Li; Pan, Min; Han, Jin; Li, Dong-Zhi

Zhang, Yong-Ling; Jing, Xiang-Yi; Zhen, Li; Pan, Min; Han, Jin; Li, Dong-Zhi.

Afiliación

Zhang YL; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Jing XY; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Zhen L; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Pan M; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Han J; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address: drlidongzhi2014@sina.com.

Eur J Obstet Gynecol Reprod Biol ; 274: 28-32, 2022 Jul.

Article en En | MEDLINE | ID: mdl-35567955

Asunto(s)

Lisencefalias Clásicas y Heterotopias Subcorticales en Banda; Hidrocefalia; Lisencefalia; 1-Alquil-2-acetilglicerofosfocolina Esterasa/genética; Lisencefalias Clásicas y Heterotopias Subcorticales en Banda/diagnóstico por imagen; Lisencefalias Clásicas y Heterotopias Subcorticales en Banda/genética; Femenino; Humanos; Lisencefalia/diagnóstico por imagen; Lisencefalia/genética; Proteínas Asociadas a Microtúbulos; Embarazo; Diagnóstico Prenatal/métodos; Estudios Retrospectivos; Síndrome; Ultrasonografía; Ultrasonografía Prenatal

Palabras clave

Lissencephaly; Miller-Dieker syndrome; PAFAH1B1 gene; Prenatal diagnosis; Ventriculomegaly

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Lisencefalia / Lisencefalias Clásicas y Heterotopias Subcorticales en Banda / Hidrocefalia Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Obstet Gynecol Reprod Biol Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Irlanda

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