A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

• Main Authors: Anwar Kamal Khan (Author), Noor Muhammad (Author), Abdul Aziz (Author), Sher Alam Khan (Author), Khadim Shah (Author), Abdul Nasir (Author), Muzammil Ahmad Khan (Author), Saadullah Khan (Author)
• Format: Book
• Published: BMC, 2017-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular leve...