Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. [electronic resource]
Producer: 20050318Description: 190-2 p. digitalISSN:- 1552-4825
- 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
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Publication Type: Case Reports; Journal Article
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