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Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family.
Lam WF, Chan HB, Sillence DO. Lam WF, et al. J Paediatr Child Health. 2003 Dec;39(9):707-12. doi: 10.1046/j.1440-1754.2003.00252.x. J Paediatr Child Health. 2003. PMID: 14629506
Two siblings from China have been observed with severe short stature of prenatal onset and developmental delay. The radiographic features were characteristic of Desbuquois syndrome. The association of a genetic skeletal dysplasia and developmental delay is a relativ …
Two siblings from China have been observed with severe short stature of prenatal onset and developmental delay. The radiographic features we …
XYLT1 mutations in Desbuquois dysplasia type 2.
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V. Bui C, et al. Am J Hum Genet. 2014 Mar 6;94(3):405-14. doi: 10.1016/j.ajhg.2014.01.020. Epub 2014 Feb 27. Am J Hum Genet. 2014. PMID: 24581741 Free PMC article.
Single-strand conformation polymorphism analysis of human decorin, biglycan and fibromodulin cDNAs.
Sztrolovics R, Rimoin DL, Rodriguez E, Roughley RJ. Sztrolovics R, et al. Matrix Biol. 1994 Aug;14(4):307-12. doi: 10.1016/0945-053x(94)90196-1. Matrix Biol. 1994. PMID: 7827753
Single-strand conformation polymorphism analysis of these proteoglycan cDNAs was also applied to study patients exhibiting a variety of connective tissue pathologies, including chondrodysplasia punctata, Desbuquois syndrome, Dyggve-Melchior-Clausen syndrome, dyssegm …
Single-strand conformation polymorphism analysis of these proteoglycan cDNAs was also applied to study patients exhibiting a variety of conn …