A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
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J. Shendure | D. Nickerson | Martin Kircher | Joshua D. Smith | M. Bamshad | H. Freeze | K. Buckingham | A. Eroshkin | B. Ng | Marie-Estelle Losfeld | Emily H. Turner