Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. (Short Report)

Authors :: Faivre, L.
Merrer, M. Le
Al-Gazali, L.I.
Ausems, M.G.E.M.
Bitoun, P.
Bacq, D.
Maroteaux, P.
Munnich, A.
Cormier-Daire, V.
Source :: Journal of Medical Genetics. April 2003, Vol. 40 Issue 4, p282, 3 p.
Publication Year :: 2003
Abstract: Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, facial dysmorphism, a 'Swedish key' appearance of the proximal femur, advanced carpal and tarsal bone age, [...]

Subjects :: Dysplasia -- Genetic aspects -- Research
Bones -- Abnormalities -- Genetic aspects -- Research
Medical genetics -- Research
Health
Genetic aspects
Research
Abnormalities

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