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The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations

  • DDD Study

    Research output: Contribution to journalArticleResearchpeer-review

    Original languageEnglish
    Pages (from-to)247-251
    Number of pages5
    JournalClinical Dysmorphology
    Volume26
    Issue number4
    DOIs
    Publication statusPublished - Oct 2017

    Keywords

    • Bone and Bones/abnormalities
    • Brachydactyly/pathology
    • Carrier Proteins/genetics
    • Child
    • Child, Preschool
    • Craniosynostoses/genetics
    • Ectodermal Dysplasia/genetics
    • Facies
    • Heterozygote
    • Humans
    • Infant
    • Infant, Newborn
    • Male
    • Mutation/genetics
    • Phenotype

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