Macías-Gómez, Nelly Margarita <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.30149  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Anion Transport Proteins<br/>Carrier Proteins--genetics<br/>Female<br/>Foot Bones--abnormalities<br/>Genotype<br/>Heterozygote<br/>Humans<br/>Infant<br/>Membrane Transport Proteins<br/>Mexico<br/>Mutation--genetics<br/>Osteochondrodysplasias--genetics<br/>Phenotype<br/>Radiography<br/>Spine--abnormalities<br/>Sulfate Transporters