Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

Gonçalves, Catarina I. ; Carriço, Josianne N. ; Omar, Omneya M. ; Abdalla, Ebtesam ; Lemos, Manuel C.

Frontiers in endocrinology (Lausanne), 2023-08, Vol.14, p.1207425-1207425 [Periódico revisado por pares]

Frontiers Media S.A

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