Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

Distal arthrogryposis (DA) is a heterogeneous sub-group of arthrogryposis multiplex congenita (AMC), mostly characterized by having congenital contractures affecting hands, wrists, feet, and ankles. Distal arthrogryposis is mostly autosomal dominantly inherited, while only one sub-type DA type 5D is...

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Main Authors: Muhammad Umair (Author), Amjad Khan (Author), Amir Hayat (Author), Safdar Abbas (Author), Abdulaziz Asiri (Author), Muhammad Younus (Author), Wajid Amin (Author), Shoaib Nawaz (Author), Shazia Khan (Author), Erum Malik (Author), Majid Alfadhel (Author), Farooq Ahmad (Author)
Format: Book
Published: Frontiers Media S.A., 2019-08-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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