Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.

Ghulam M KhanNoor HassanNiamatullah KhanMuhammad HumayunKafaitullah KhanSamira KhaliqFazal U RehmanSheikh AhmedKhadim ShahSher A KhanNoor MuhammadAbdul WaliSaadullah KhanSulman BasitMuhammad Ayub

Published in: International journal of dermatology (2019)

The molecular analysis further confirms the frequent involvement of LPAR6 in autosomal recessive wooly hair/hypotrichosis, while the bioinformatic study revealed that the missense mutation destabilizes the overall structure of P2RY5 protein.

Keyphrases

intellectual disability
autism spectrum disorder
gene expression
transcription factor
dna methylation
small molecule