Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of
the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This …

Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as
1: 7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at …

In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that
LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass …

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also
known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces …

We used an exome-sequencing strategy and identified an allelic series of NOTCH2
mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder …

Background Misoprostol is commonly used to induce abortion in Brazil, and in other
countries in South and Central America where abortions are illegal. However, misoprostol is …

Background Noonan syndrome is an autosomal dominant, multisystemic disorder caused by
dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous …

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed
osseous maturation, expressive-language deficits, and a distinctive facial appearance …

The SUZ12 gene encodes a subunit of polycomb repressive complex 2 (PRC2) that is
essential for development by silencing the expression of multiple genes. Germline …

Misoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an
abortifacient. Abortion is illegal in Brazil. An uncertain number of these abortion attempts are …