Oligodontia | Causes, Diagnosis and Treatments
Oligodontia refers to the absence of multiple teeth (more than six teeth), excluding the third molars.
It is caused by autosomal recessive mutation in LTBP3.
Developmental anomalies
Netherton Syndrome | Causes, Diagnosis, and Treatments
Netherton Syndrome is a rare hereditary autosomal recessive multisystem disorder characterized by generalized erythroderma at birth or soon after.
NS is caused by a mutation in serine protease inhibitor, Kazal type 5 gene (SPINK5), which is located on the long arm of Chromosome 5.