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

JOURNAL ARTICLE published May 2017 in European Journal of Human Genetics

Authors: 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 Vogt | Marjolaine Willems | Jonathan Zonana | D D D Study | Sarah F Smithson