Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β‐catenin
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DOI: 10.1111/cge.13165
Abstract: Filamin B (FLNB) functions as a switch that can affect chrondrocyte development and endochondral bone formation through a series of signaling molecules and transcription factors that also affect Sertoli cell development. Here, we report a… read more here.
Keywords: flnb; mutations flnb; gonadal dysgenesis; biallelic mutations ... See more keywords