L
Lucia Schubert
Researcher at French Institute of Health and Medical Research
Publications - 1
Citations - 301
Lucia Schubert is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: SALL1 & SALL4. The author has an hindex of 1, co-authored 1 publications receiving 282 citations.
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Okihiro syndrome is caused by SALL4 mutations
Jürgen Kohlhase,Marielle Heinrich,Lucia Schubert,Manuela Liebers,Andreas Kispert,Franco Laccone,Peter Turnpenny,Robin M. Winter,William Reardon +8 more
TL;DR: Evidence is presented in 5 of 8 affected families that mutation at this locus results in the Okihiro syndrome phenotype, and the human SALL4 gene on chromosome 20q13-q13.2 is characterized.