Bone, Skin & Immune
Genetic testing for inherited bone, skin or immune diseases provides rapid and comprehensive information to aid the diagnosis of these conditions. Early diagnosis opens up the possibilities for selecting optimal treatments and in addition prediction of disease progression.
Articles on Bone, Skin & Immune
Alpha-mannosidosis is a rare lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an…
Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other…
Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.
A Novel SOX18 Mutation Uncovered in Jordanian Patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome by Whole Exome Sequencing
The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). In this…
Focal dermal hypoplasia is an unusual genetic disease that affects ectodermal and mesodermal derivatives. This is the case of an eight year old female from Colombia with multiple congenital malformations.