TY  - GEN
AU  - Macías-Gómez,Nelly Margarita
AU  - Mégarbané,André
AU  - Leal-Ugarte,Evelia
AU  - Rodríguez-Rojas,Lisa Ximena
AU  - Barros-Núñez,Patricio
TI  - Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation
SN  - 1552-4825
PY  - 2005///0318
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Anion Transport Proteins
KW  - Carrier Proteins
KW  - Female
KW  - Foot Bones
KW  - abnormalities
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Membrane Transport Proteins
KW  - Mexico
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - Phenotype
KW  - Radiography
KW  - Spine
KW  - Sulfate Transporters
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.30149
ER  -