Citation

Asadi S, Jamali M (2019) The Role of Genetics Mutations in Genes PORCN, TWIST2, HCCS in Goltz Syndrome. Int J Immunol Immunother 6:038. doi.org/10.23937/2378-3672/1410038

Copyright

© 2019 Asadi S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

REVIEW ARTICLE | OPEN ACCESSDOI: 10.23937/2378-3672/1410038

The Role of Genetics Mutations in Genes PORCN, TWIST2, HCCS in Goltz Syndrome

Shahin Asadi1* and Mahsa Jamali2

Division of Medical Genetics and Molecular Pathology Research, Molecular Genetics-IRAN-TABRIZ, Iran

Abstract

Goltz syndrome (focal skin hypoplasia) is a genetic disorder that primarily affects the skin, skeletal system, eyes and face. People with Goltz syndrome have birth defects. These disorders include very thin skin veins (skin hypoplasia), pink yellow nodules, subcutaneous fat, lack of upper skin layers (aplasia cutis), small clusters of superficial skin vessels (telangiectasia), and veins in dark skin Or bright. Goltz syndrome is caused by mutation genes PORCN, TWIST2, HCCS.