Published in

Elsevier, Journal of Investigative Dermatology, 4(134), p. 1152-1154, 2014

DOI: 10.1038/jid.2013.444

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Rothmund–Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Abbreviations: RECQL4, RecQ protein-like 4; RTS, Rothmund–Thomson syndrome