Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance...

by Katherine J Turner, Jacqueline Hoyle, Leonardo E Valdivia, Kara L Cerveny, Wendy Hart, Maryam Mangoli, Robert Geisler, Michele Rees, Corinne Houart, Richard J Poole, Stephen W Wilson, Gaia Gestri
Published 2019-01-01

A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report

by Panicos Shangaris, Alison Ho, Andreas Marnerides, Simi George, Mudher AlAdnani, Shu Yau, Mattias Jansson, Jacqueline Hoyle, Joo Wook Ahn, Sian Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy, Muriel Holder-Espinasse
Published 2021-02-01