Articles with "fam20c variants" as a keyword



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Two Novel FAM20C Variants in a Family with Raine Syndrome

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Published in 2020 at "Genes"

DOI: 10.3390/genes11020222

Abstract: 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… read more here.

Keywords: raine syndrome; family; case; two novel ... See more keywords