Medical complications of achondroplasia: a multicentre patient review. [PDF]
, 1998 Alasdair G. W. Hunter +4 more
openalex +1 more source
Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta [PDF]
, 2014 core +1 more source
A possible juvenile hypochondroplasia case from the mass grave of Lazzaretto Nuovo Island (Venice) [PDF]
Among the remains of individuals buried in the cemetery of the New Lazaretto (Venice) during the plague epidemic of 1576, a juvenile skeleton with a discrepancy between the biological age at death obtained by the diaphyseal length was recovered.
Borrini, C, Borrini, M, Riccadonna, L
core
Achondroplasia with the FGFR3 1138gright-arrowa (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father [PDF]
, 2000 Diana Sobetzko
openalex +1 more source
Achondroplasia and nail-patella syndrome: the compound phenotype [PDF]
, 2000 Michael Wright
openalex +1 more source
Conceptual Breakthroughs In Developmental Biology [PDF]
, 1998 Gilbert, Scott F.
core +2 more sources
Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum. [PDF]
Orphanet J Rare DisFauroux B +18 more
europepmc +1 more source
Increased Carbohydrate-deficient Transferrin Concentration and Abnormal Protein Glycosylation of Unknown Etiology in a Patient with Achondroplasia [PDF]
, 2000 Birgit Assmann +4 more
openalex +1 more source
Germline and somatic mosaicism in achondroplasia [PDF]
, 2000 Shirley Henderson
openalex +1 more source
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset [PDF]
, 2016 core +1 more source