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The Journal of Clinical Endocrinology and Metabolism|September 16, 1999
A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasiaE Schipani, C Langman, J Hunzelman, et al.Human Genetics|December 1, 1995
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosisH W Ma, E Lajeunie, M Le Merrer, et al.American Journal of Medical Genetics. Part A|May 13, 2008
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneityB Isidor, V Cormier-Daire, M Le Merrer, et al.European Journal of Pediatrics|April 1, 1988
A variant of mucolipidosis. II. Clinical, biochemical and pathological investigationsL Poenaru, L Castelnau, F Tome, et al.Annales De Biologie Clinique|January 1, 1981
[Tissular collagen polymerization (author's transl)]M Le Lous, J C Allain, S Bazin, et al.La Nouvelle Presse Medicale|November 27, 1976
[Dominant generalized cortical hyperostosis with multiple involvement of the cranial nerves]J Lapresle, P Maroteaux, R Kuffer, et al.The Journal of Rheumatology|January 1, 1993
Two cases of spondylometaphyseal dysplasia. Literature review and discussion of the genetic inheritance of the diseaseJ M Nores, O Dizien, J M Remy, et al.American Journal of Medical Genetics|January 1, 1993
Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locusT Ogata, P Goodfellow, C Petit, et al.Archives Francaises De Pediatrie|August 1, 1977
[Chondrodystrophy in monozygous twins, secondary to cellular division disorder]J Battin, V Stanescu, R Stanescu, et al.Human Genetics|February 1, 1997
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 regionA Toutain, N Ronce, B Dessay, et al.Pageof 29