Biallelic mutations in the LPAR 6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

Author:

Khan Ghulam M.1,Hassan Noor1,Khan Niamatullah2,Humayun Muhammad2,Khan Kafaitullah3,Khaliq Samira1,Rehman Fazal U.3,Ahmed Sheikh1,Shah Khadim4ORCID,Khan Sher A.2,Muhammad Noor2,Wali Abdul5,Khan Saadullah2,Basit Sulman6ORCID,Ayub Muhammad1

Affiliation:

1. Institute of Biochemistry University of Balochistan Quetta Pakistan

2. Department of Biotechnology & Genetic Engineering Kohat University of Science & Technology Kohat Khyber Pakhtunkhwa Pakistan

3. Department of Microbiology University of Balochistan Quetta Pakistan

4. Department of Biotechnology COMSATS University Islamabad Abbottabad Campus Pakistan

5. Department of Biotechnology Faculty of Life Sciences & Informatics BUITEMS Quetta Pakistan

6. Center for Genetics and Inherited Diseases Taibah University Almadinah Almadinah Saudi Arabia

Funder

Higher Education Commission, Pakistan

Publisher

Wiley

Subject

Dermatology

Reference28 articles.

1. Hereditary woolly hair with ocular involvement

2. A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome;Ramoğlu MG;Anatol J Cardiol,2017

3. Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene

4. Familial Woolly Hair: A Rare Entity

5. Genetics of human isolated hereditary hair loss disorders

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