Two Novel <i>FAM20C</i> Variants in a Family with Raine Syndrome

Two Novel <i>FAM20C</i> Variants in a Family with Raine Syndrome

Two siblings from a Mexican family who carried lethal Raine syndrome are presented. A newborn term male (case 1) and his 21 gestational week brother (case 2), with a similar osteosclerotic pattern: generalized osteosclerosis, which is more evident in facial bones and cranial base. Prenatal findings...

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Bibliographic Details
Main Authors: Araceli Hernández-Zavala, Fernando Cortés-Camacho, Icela Palma-Lara, Ricardo Godínez-Aguilar, Ana María Espinosa, Javier Pérez-Durán, Patricia Villanueva-Ocampo, Carlos Ugarte-Briones, Carlos Alberto Serrano-Bello, Paula Jesús Sánchez-Santiago, José Bonilla-Delgado, Marco Antonio Yáñez-López, Georgina Victoria-Acosta, Adolfo López-Ornelas, Patricia García Alonso-Themann, José Moreno, Carmen Palacios-Reyes
Format: Article
Language:English
Published: MDPI AG 2020-02-01
Series:Genes
Subjects:
lethal raine syndrome
<i>fam20c</i>
new variants
histopathology
Online Access:https://www.mdpi.com/2073-4425/11/2/222

Internet

https://www.mdpi.com/2073-4425/11/2/222

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