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

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Fingerprint Dive into the research topics of 'PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features'. Together they form a unique fingerprint.

Medicine & Life Sciences