title: Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.
authors.affiliation: aInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technical University of Dresden bUniversity Center for Rare Diseases, University Clinic Carl Gustav Carus, Dresden cMitteldeutscher Praxisverbund for Human Genetics, Practice in Meerane, Meerane, Germany.
authors.forename: Luisa
authors.initials: L
authors.lastname: Mackenroth
authors.forename: Andreas
authors.initials: A
authors.lastname: Rump
authors.forename: Peter
authors.initials: P
authors.lastname: Lorenz
authors.forename: Evelin
authors.initials: E
authors.lastname: Schröck
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
mesh_terms: D000071096:ADAMTS Proteins / Q000235:genetics*; D000483:Alleles; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype
chemical_list: D000071096:ADAMTS Proteins; C000590227:ADAMTSL2 protein, human