First reported adult patient with TARP syndrome: A case report

Research output: Contribution to journalJournal articleResearchpeer-review

6 Citations (Scopus)
174 Downloads (Pure)
Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume176
Issue number12
Pages (from-to)2915-2918
Number of pages4
ISSN1552-4825
DOIs
Publication statusPublished - Dec 2018

Keywords

  • Pierre Robin syndrome
  • RBM10
  • RNA-binding proteins
  • TARP syndrome
  • clubfoot
  • heart septal defects, congenital
  • intellectual disability
  • mental retardation, X-linked
  • scoliosis

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