Associated Papers
Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.
Houdayer C et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2021
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M et al.
Human Mutation, 2012
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