A mild variant of Desbuquois dysplasia
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[1] K. Ozono,et al. Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. , 1998, American journal of medical genetics.
[2] K. Ozono,et al. A distinct subtype of “metatropic dysplasia variant” characterised by advanced carpal skeletal age and subluxation of the radial heads , 1998, Pediatric Radiology.
[3] D. Bakalinova,et al. Desbuquois syndrome in an Arab Bedouin family , 1996, Clinical genetics.
[4] K. Zerres,et al. Desbuquois syndrome: three further cases and review of the literature. , 1995, Clinical dysmorphology.
[5] D. Rimoin,et al. Desbuquois syndrome: clinical, radiographic, and morphologic characterization. , 1994, American journal of medical genetics.
[6] D. Sillence,et al. Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis. , 1994, American journal of medical genetics.
[7] P. Meinecke,et al. Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation. , 1989, American journal of medical genetics.
[8] F. Beemer,et al. A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age. , 1985, American journal of medical genetics.
[9] J. Laville,et al. Larsen's syndrome: review of the literature and analysis of thirty-eight cases. , 1994, Journal of pediatric orthopedics.