title: Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.
authors.forename: Robert
authors.initials: R
authors.lastname: Pogue
authors.forename: Nadia
authors.initials: N
authors.lastname: Ehtesham
authors.forename: Gabriela M
authors.initials: GM
authors.lastname: Repetto
authors.forename: Roque
authors.initials: R
authors.lastname: Carrero-Valenzuela
authors.forename: Cristina Bazán
authors.initials: CB
authors.lastname: de Casella
authors.forename: Silvia Pintos
authors.initials: SP
authors.lastname: de Pons
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: Solange
authors.initials: S
authors.lastname: Heuertz
authors.forename: Valerie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Cohn
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001118:Argentina; D002677:Chile; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006141:Guam; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000473:pathology*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D013030:Spain; D013577:Syndrome
chemical_list: C477370:DYM protein, human; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins