Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. [electronic resource]
Producer: 20160701Description: e0146040 p. digitalISSN:- 1932-6203
- Adolescent
- Child
- Child, Preschool
- Female
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Muscle Proteins -- genetics
- Mutation
- Myotonia Congenita -- complications
- Rare Diseases -- genetics
- Rickets, Hypophosphatemic -- complications
- Selenoproteins -- genetics
- Sodium-Phosphate Cotransporter Proteins, Type IIc -- genetics
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Publication Type: Case Reports; Journal Article
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