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Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability， microcephaly， progressive ataxia， and muscle weakness.

Ann Clin Transl Neurol. 2014; 
HuHao，MatterMichelle L，Issa-JahnsLina，JijiwaMayumi，KraemerNadine，MusanteLuciana，de la VegaMichelle，NinnemannOlaf，SchindlerDetlev，DamatovaNatalia，EirichKatharina，SifringerMarco，SchrötterSandra，EickholtBritta J，van den HeuvelLambert，CasaminaChanel，Stoltenburg-DidingerGisela，RopersHans-Hilger，WienkerThomas F，HübnerChristoph，KaindlAnge
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Gene Synthesis To specifically amplify and detect Ptrh2, Hprt (Hypoxanthine-guanine phosphoribosyl-transferase, reference gene), and RpII (RNA polymerase II, reference gene) cDNA, we designed sets of primers and TaqMan probe using the GenScript real-time PCR (TaqMan) Primer Design online software (www.genscript.com). Get A Quote

摘要

To identify the cause of a so-far unreported phenotype of infantile-onset multisystem neurologic， endocrine， and pancreatic disease (IMNEPD).

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