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    P343: Identification of a novel homozygous TMEM53 variant in a patient with extensive homozygosity: Classification challenges despite phenotypic consistency with craniotubular dysplasia

    P343: Identification of a novel homozygous TMEM53 variant in a patient with extensive homozygosity: Classification challenges despite phenotypic consistency with craniotubular dysp... by Layal Abi Farraj, Saeideh Torabi Dalivandan, Naghmeh Dorrani, Deborah Krakow, Josh Deignan

    Published 2025-01-01
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