Poland syndrome
Poland Syndrome is a rare condition that affects the development of one side of the chest and hand. It is named after…
How can gene variants affect health and development
When it comes to understanding human health and development, it is crucial to have accurate and reliable information about genetic variants. These…
CYP21A2 gene
The CYP21A2 gene plays a crucial role in the production of hormones such as cortisol and aldosterone. Variants in this gene can…
FLG gene
The FLG gene, also known as the filaggrin gene, plays a crucial role in the development and maintenance of the epidermis, the…
MN1 gene
The MN1 gene is a gene listed in various genetic databases and is also referred to as the “MN1 proto-oncogene, transcriptional regulator”…
Megalencephaly-capillary malformation syndrome
Megalencephaly-capillary malformation (MCAP) syndrome, also called megalencephaly-capillary malformation-polymicrogyria syndrome, is a rare genetic condition characterized by overgrowth of the brain (megalencephaly), small…
COQ8A gene
The COQ8A gene, also known as ADCK3, is a gene that provides instructions for making a protein involved in the synthesis of…
ANTXR2 gene
The ANTXR2 gene is associated with several health conditions, including Ramírez Syndrome, hyaline fibromatosis syndrome, and systemic hyalinosis. The ANTXR2 gene provides…
VDR gene
The VDR gene, also known as the Vitamin D receptor gene, plays a crucial role in various health conditions. It is responsible…