Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.

Macías-Gómez, Nelly Margarita

Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. [electronic resource] - American journal of medical genetics. Part A Aug 2004 - 190-2 p. digital

Publication Type: Case Reports; Journal Article

1552-4825

10.1002/ajmg.a.30149 doi


Abnormalities, Multiple--genetics
Anion Transport Proteins
Carrier Proteins--genetics
Female
Foot Bones--abnormalities
Genotype
Heterozygote
Humans
Infant
Membrane Transport Proteins
Mexico
Mutation--genetics
Osteochondrodysplasias--genetics
Phenotype
Radiography
Spine--abnormalities
Sulfate Transporters