Associated Papers
A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.
Lhousni S et al.
Bone, 2023
A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.
Gutiérrez-Amavizca BE et al.
European Journal of Medical Genetics, 2012
Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity.
Kotzsch A et al.
The Embo Journal, 2009
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.
Szczaluba K et al.
American Journal of Medical Genetics. Part A, 2005
Select a paper to view details