Two Novel FAM20C 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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Hernández-Zavala, Araceli, Cortés-Camacho, Fernando, Palma-Lara, Icela, Godínez-Aguilar, Ricardo, Espinosa, Ana María, Pérez-Durán, Javier, Villanueva-Ocampo, Patricia, Ugarte-Briones, Carlos, Serrano-Bello, Carlos Alberto, Sánchez-Santiago, Paula Jesús, Bonilla-Delgado, José, Yáñez-López, Marco Antonio, Victoria-Acosta, Georgina, López-Ornelas, Adolfo, García Alonso-Themann, Patricia, Moreno, José, Palacios-Reyes, Carmen
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7073523/
https://ncbi.nlm.nih.gov/pubmed/32093234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11020222
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