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. 2015 Mar 11;16(3):5697–5713. doi: 10.3390/ijms16035697

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© 2015 by the authors; licensee MDPI, Basel, Switzerland.

This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/).

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Sequences of CREBBP, IGFALS, and TNC for the family trio. A downward arrow indicates the mutated residue and nucleotides are shown in colored, single-letter codes. The black circle indicates the proband.