HIGHLIGHTS
- who: January and collaborators from the Italian Auxological Institute (IRCCS), Italy Genetics and Applied Genomics, University of Tu00fcbingen, Tu00fcbingen, Germany, Department of Clinical have published the research: -associated Chung-Jansen syndrome: Report of 23 new individuals, in the Journal: (JOURNAL)
- what: The authors report 23 additional individuals with newly identified pathogenic or likely pathogenic PHIP variants or (partial) deletions of PHIP. The authors report on 23 new cases of PHIP associated CHUJANS.
SUMMARY
Afterwards, Craddock et_al further characterized 10 individuals with predicted deleterious variants in PHIP and could show that the . . .
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