A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

por Ali, Ghazanfar, Sadia, Sadia, Ain-ul- Batool, Syeda, Azeem, Zahid, Awan, Naheed Bashir, Kazmi, Syed Akif Raza, Ur- Rehman, Zia-, Anjum, Zeeshan, Ur- Rehman, Fazal-, Wali, Abdul, Khan, Kafaitullah, Zaman, Nasib, Ayub, Muhammad, Sajid, Muhammad, Hassan, Noor
Publicado 2023

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

por Ali, Ghazanfar, Sadia, Foo, Jia Nee, Nasir, Abdul, Chang, Chu-Hua, Chew, Elaine GuoYan, Latif, Zahid, Azeem, Zahid, Ain-ul-Batool, Syeda, Kazmi, Syed Akif Raza, Awan, Naheed Bashir, Khan, Abdul Hameed, Rehman, Fazal-Ur-, Khalid, Madiha, Wali, Abdul, Sarwar, Samina, Akhtar, Wasim, Ahmed Abbasi, Ansar, Nisar, Rameez
Publicado 2021