Bardet-Biedl Syndrome (BBS) is a rare multisystem ciliopathy with autosomal recessive inheritance and genetic heterogeneity, characterised by retinal degeneration, post axial polydactyly, renal disease, hypogonadism, central obesity, several dysmorphic features and variable degre...
Open access
Research Article10.9734/ajpr/2025/v15i5444
Inborn Errors of Immunity (IEI) is an extremely rare group of heterogenous disorders which are characterized by predisposition to severe unusual and recurrent infections, severe allergies, features suggestive of autoimmune conditions and sometimes malignancies. We report a two-ye...
Open access
Research Article10.9734/ajpr/2024/v14i2323
Nager syndrome, or preaxial acrofacial dysostosis, is a rare malformation characterized by abnormalities of the craniofacial skeleton and limbs. Although most cases are sporadic and some cases have been demonstrated to have an autosomal dominant or recessive mode of inheritance,...
Open access
Research Article10.9734/ajpr/2023/v13i4293