Two Novel FAM20C Variants in A Family with Raine Syndrome.

doi:10.3390/genes11020222

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Article

Two Novel FAM20C Variants in A Family with Raine Syndrome.

Genes - 20 Feb 2020

Hernández-Zavala Araceli, Cortés-Camacho Fernando, Palma Lara Icela, Godinez-Aguilar Ricardo, Espinosa-García Ana María, Pérez-Durán Javier, Villanueva-Ocampo Patricia, Ugarte-Briones Carlos, Serrano-Bello Carlos Alberto, Sanchez-Santiago Paula, Bonilla-Delgado José, Yañez-López Marco Antonio, Victoria-Acosta Georgina, López-Ornelas Adolfo, García Alonso-Themann Patricia, Moreno José, Palacios-Reyes Carmen

Abstract excerpt

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 at 21 weeks and histopathological features for case 2 are described. A novel combination of biallelic FAM20C...

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PMID: 32093234
DOI: 10.3390/genes11020222
PMCID: PMC7073523

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