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The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.

Enise Avci DurmusaliogluEsra IsikDurdugul Ayyildiz EmecenDamla GoksenSamim OzenHuseyin OnayMelis KoseTahir AtikSukran DarcanOzgur CoguluFerda Ozkinay
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2021)
Reverse phenotyping using a multigene panel shortens the diagnostic process.
Keyphrases
  • high throughput
  • postmenopausal women
  • bone mineral density
  • protein protein
  • amino acid
  • binding protein
  • small molecule
  • single cell