PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Karen J. Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R. Fitzpatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K. Selmer, Michael C. Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D. Vigeland, Julie VogtMarjolaine Willems, Jonathan Zonana, D. D.D. Study, Sarah F. Smithson*

*Corresponding author for this work

Research output: Contribution to journal › Article (Academic Journal) › peer-review

46 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology