Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
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1. Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures;Clinical Genetics;2024-01-26
2. Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome;Cell;2023-05
3. Structure of the Commander endosomal trafficking complex linked to X-linked intellectual disability/Ritscher-Schinzel syndrome;2023-01-26
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