Lal, Dennis

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. [electronic resource] - PloS one 2016 - e0146040 p. digital

Publication Type: Case Reports; Journal Article

1932-6203

10.1371/journal.pone.0146040 doi


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