Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of
medical, functional and psychosocial challenges across the lifespan. The condition is …

Achondroplasia, the most common form of disproportionate short stature, is caused by a
variant in the fibroblast growth factor receptor 3 (FGFR3) gene. Advances in drug treatment …

Background Adverse health effects at relatively low levels of ambient air pollution have
consistently been reported in the last years. We conducted a time-series panel study of …

OBJECTIVE: To determine if either supplemental vitamin A, zinc, or both increases cell‐
mediated immune response in an older population. DESIGN: A double‐blind, randomized …

Aims Oral glucose-lowering medications are associated with excess risk of heart failure
(HF). Given the absence of comparative data among drug classes, we performed a …

Background Several studies have been conducted on the possible health effects for people
living close to incinerators and well-conducted reviews are available. Nevertheless, several …

Prader‐Willi syndrome (PWS) is a multisystemic disorder caused by the loss of expression of
paternally transcribed genes within chromosome 15q11‐q13. Most cases are due to …

Background Achondroplasia (ACH), the most common form of disproportionate short stature,
is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent …

The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in
the CUL7 gene and characterized by severe pre-and postnatal growth retardation. Studying …

Heterozygous missense mutations of transient receptor potential vanilloid 4 channel
(TRPV4) cause a spectrum of skeletal disorders, including brachyolmia …