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Journal of Medical Genetics|November 1, 1990
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasiaA Verloes, G E Pierard, M Le Merrer, et al.
Clinical Genetics|July 1, 1997
Incomplete penetrance and expressivity skewing in hereditary multiple exostosesL Legeai-Mallet, A Munnich, P Maroteaux, et al.
European Journal of Pediatrics|September 1, 1991
Desbuquois syndromeM Le Merrer, I D Young, V Stanescu, et al.
Annales De Pediatrie|January 1, 1991
[Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease]M le Merrer, M L Briard, M L Chauvet, et al.
European Journal of Pediatrics|May 1, 1995
Acral dysostosis dyserythropoiesis syndromeM Le Merrer, R Girot, P Parent, et al.
American Journal of Medical Genetics|May 3, 1996
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfismJ Bonaventure, F Rousseau, L Legeai-Mallet, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literatureD Geneviève, M Le Merrer, J Feingold, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|October 1, 1996
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasiaJ Bonaventure, F Rousseau, L Legeai-Mallet, et al.
Human Genetics|October 1, 1995
Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)S Heuertz, A Smahi, A O Wilkie, et al.
The Journal of Clinical Endocrinology and Metabolism|December 22, 1999
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesE Vilain, M Le Merrer, C Lecointre, et al.
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