Endocrine Abstracts

GAPO syndrome (OMIM 230740) is a rare, multiple congenital anomalies syndrome characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations. Syndrome caused by anthrax toxin receptor 1 (ANTXR1) gene (NM_032208.2) mutation leading to deficiency of an enzyme involved in the metabolism and breakdown of extracellular matrix (ECM). Disease show parental consanguinity, autosomal recessive inheritance and since first description in 1947 a total of 38 patien...