Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene gene, a known suppressor of TGF- activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys-Dietz syndromes.
View Article and Find Full Text PDFDespite significant advances in perinatal and neonatal medicine, infant mortality (IM) remains a significant public health problem. The causes of IM are complex, numerous, and a result of interacting genetic and environmental factors. This paper explores genetic contributions to IM using data from Virginia.
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