Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

A novel mutation in CDMP1 causes brachydactyly type C with “angel-shaped phalanx”. A genotype–phenotype correlation in the mutational spectrum

(2012) Bianca Ethel Gutiérrez-Amavizca et al.   European Journal of Medical Genetics

NMD: a multifaceted response to premature translational termination

(2012) Stephanie Kervestin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

Heterozygote expression in Grebe Chondrodysplasia

(2010) Diana Curtis   CLINICAL GENETICS

A new bioinformatics analysis tools framework at EMBL-EBI

(2010) M. Goujon et al.   NUCLEIC ACIDS RESEARCH

Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5–type I receptor specificity

(2009) Alexander Kotzsch et al.   EMBO JOURNAL

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

(2008) Sofia Douzgou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

(2008) Sulman Basit et al.   BMC Medical Genetics

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5

(2008) Muhammad Faiyaz-Ul-Haque et al.   JOURNAL OF BONE AND MINERAL METABOLISM