Bone Abstracts

Acrodysostosis refers to a group of rare chondrodysplasia that share severe brachydactyly, short stature and nasal hypoplasia. Through a candidate gene approach or exome sequencing, heterozygous mutations in PRKAR1A or in PDE4D, respectively, have been identified in patients with acrodysostosis. PRKAR1A encodes the regulatory subunit of the protein kinase A (PKA), which allows, upon binding of cAMP, phosphorylation of target proteins by the catalytic subunit ...

Biographical DetailsDr A Linglart is a Paediatric Endocrinologist working at the Hôpital St Vincent de Paul in Parism, France. She has a special interest in rare diseases....