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.
Pogue
Robert
R
Ehtesham
Nadia
N
Repetto
Gabriela M
GM
Carrero-Valenzuela
Roque
R
de Casella
Cristina Bazán
CB
de Pons
Silvia Pintos
SP
Martínez-Frías
Maria Luisa
ML
Heuertz
Solange
S
Cormier-Daire
Valerie
V
Cohn
Daniel H
DH
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
C477370:DYM protein, human; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins