TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy

F Boschann, Kyra Stuurman, C Bruin, Marjon van Slegtenhorst, HA van Duyvenvoorde, SCJ Kant, N Ehmke

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)
17 Downloads (Pure)
Original languageEnglish
Pages (from-to)431-436
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Publication statusPublished - 2020

Research programs

  • EMC OR-01

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