A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families

• Main Authors: Sadia, Foo, Jia Nee, Khor, Chiea Chuen, Jelani, Musharraf, Ali, Ghazanfar
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2021
• Subjects: Science::Medicine; Ectodysplasin A Receptor; Hypohidrotic Ectodermal Dysplasia
• Online Access: https://hdl.handle.net/10356/149978
• Institution: Nanyang Technological University

Background: Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from the abnormal development of ectoderm derived structures, including skin, hair, nails, teeth and glands. These patients have sparse hair on the whole body, including the scalp, as well as hypoplastic teeth....