Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of <i>DYNC2H1</i> gene.

He, Yi; Li, Yu-Juan; Xu, Li-Li; Li, Dong-Zhi

Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene.

He, Yi; Li, Yu-Juan; Xu, Li-Li; Li, Dong-Zhi.

Afiliación

He Y; Prenatal Diagnosis Center, Dongguan Maternal and Children Healthcare Hospital, Dongguan, China.
Li YJ; Prenatal Diagnosis Center, Dongguan Maternal and Children Healthcare Hospital, Dongguan, China.
Xu LL; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

J Obstet Gynaecol ; 40(6): 874-876, 2020 Aug.

Article en En | MEDLINE | ID: mdl-31609148

Asunto(s)

Síndrome de Costilla Pequeña y Polidactilia/genética; Aborto Eugénico; Dineínas Citoplasmáticas/genética; Femenino; Humanos; Medida de Translucencia Nucal; Linaje; Embarazo; Primer Trimestre del Embarazo; Secuenciación del Exoma

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Costilla Pequeña y Polidactilia Límite: Female / Humans / Pregnancy Idioma: En Revista: J Obstet Gynaecol Año: 2020 Tipo del documento: Article País de afiliación: China

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