An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
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Gavin R. Oliver | D. Babovic‐Vuksanovic | E. Klee | Garrett Jenkinson | C. Zepeda-Mendoza | M. Cousin | S. Pittock | Shubham Basu | L. Baughn