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Original Articles

A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family

Hayat, Amira; Khan, Atif Ahmada; Rauf, Abdura; Khan, Saad Ullahb; Hussain, Shabirc; Ullah, Asmatd; Ahmad, Wasimc; Shams, Sulaimana; Khan, Bushraa

Author Information
doi: 10.1097/MCD.0000000000000294
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