A case report of PHF6 mosaicism: Beyond the classic Borjeson-Forssman-Lehmann syndrome
Por:
Garcia-Melendo, C, Roe, E, Rodriguez-Santiago, B, Amat-Samaranch, V, Cubiro, X, Puig, L, Boronat, S
Publicada:
1 jul 2021
Ahead of Print:
1 may 2021
Resumen:
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 Borjeson-Forssman-Lehmann, but females have a distinct phenotype which is likely modulated by X-inactivation.
Filiaciones:
Garcia-Melendo, C:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Dermatol, Barcelona, Spain
Roe, E:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Dermatol, Barcelona, Spain
Rodriguez-Santiago, B:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Genet, Barcelona, Spain
Amat-Samaranch, V:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Dermatol, Barcelona, Spain
Cubiro, X:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Dermatol, Barcelona, Spain
Puig, L:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Dermatol, Barcelona, Spain
Boronat, S:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Pediat, Barcelona, Spain
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