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

• المؤلفون الرئيسيون: Sadia, Foo, Jia Nee, Khor, Chiea Chuen, Jelani, Musharraf, Ali, Ghazanfar
• مؤلفون آخرون: Lee Kong Chian School of Medicine (LKCMedicine)
• التنسيق: مقال
• اللغة: English
• منشور في: 2021
• الموضوعات: Science::Medicine; Ectodysplasin A Receptor; Hypohidrotic Ectodermal Dysplasia
• الوصول للمادة أونلاين: https://hdl.handle.net/10356/149978

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....