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
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.
Turgut GT et al.
Molecular Syndromology, 2023
Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism.
Zhang X et al.
Oncotarget, 2017
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
Martinez-Garcia M et al.
Journal of Bone and Mineral Metabolism, 2016
The genomic landscape of childhood and adolescent melanoma.
Lu C et al.
The Journal of Investigative Dermatology, 2015
25268584 (PubMed )
Supplement: jid2014425x2.xls › Table_S7_All_WES_Tier1.SNV
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.
Stange K et al.
Journal of Molecular Biology, 2014
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.
Farooq M et al.
Human Genetics, 2013
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
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
Douzgou S et al.
American Journal of Medical Genetics. Part A, 2008
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