These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome.
    Author: Garcia-Melendo C, Roé E, Rodríguez-Santiago B, Amat-Samaranch V, Cubiró X, Puig L, Boronat S.
    Journal: Pediatr Dermatol; 2021 Jul; 38(4):919-925. PubMed ID: 34041787.
    Abstract:
    We report a 6-year-old female with linear skin hyperpigmentation on the axillae and groin, intellectual disability, dysplastic teeth and nails, and facial dysmorphism who was diagnosed with a novel PHF6 pathogenic splicing variant. Males with PHF6 mutations have been associated with the X-linked recessive disorder Börjeson-Forssman-Lehmann, but females have a distinct phenotype which is likely modulated by X-inactivation.
    [Abstract] [Full Text] [Related] [New Search]