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Items: 6

1.
Morquio-Ullrich's Disease: An Inborn Error of Metabolism?
H. V. Dyggve, J. C. Melchior, J. Clausen
Arch Dis Child. 1962 Oct; 37(195): 525–534. doi: 10.1136/adc.37.195.525
PMCID:
PMC2012915
ArticlePDF–2.9M
2.
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1
C Thauvin-Robinet, V El Ghouzzi, W Chemaitilly, N Dagoneau, O Boute, G Viot, A Megarbane, A Sefiani, A Munnich, M Le Merrer, V Cormier-Daire
J Med Genet. 2002 Oct; 39(10): 714–717. doi: 10.1136/jmg.39.10.714
PMCID:
PMC1734996
SummaryPDF–290K
3.
The Dyggve-Melchior-Clausen syndrome.
J Naffah
Am J Hum Genet. 1976 Nov; 28(6): 607–614.
PMCID:
PMC1685173
ArticlePDF–1.9M
4.
Dyggve-Melchior-Clausen syndrome.
P Beighton
J Med Genet. 1990 Aug; 27(8): 512–515. doi: 10.1136/jmg.27.8.512
PMCID:
PMC1017201
ArticlePDF–990K
5.
Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene
Daniel H. Cohn, Nadia Ehtesham, Deborah Krakow, Sheila Unger, Alan Shanske, Kent Reinker, Berkley R. Powell, David L. Rimoin
Am J Hum Genet. 2003 Feb; 72(2): 419–428. Published online 2002 Dec 16. doi: 10.1086/346176
PMCID:
PMC420018
ArticlePDF–1.2M
6.
Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12
Nadia Ehtesham, Rita M. Cantor, Lily M. King, Kent Reinker, Berkley R. Powell, Alan Shanske, Sheila Unger, David L. Rimoin, Daniel H. Cohn
Am J Hum Genet. 2002 Oct; 71(4): 947–951. Published online 2002 Aug 2. doi: 10.1086/342669
PMCID:
PMC378548
ArticlePDF–107K

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