Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β‐catenin

Publisher： John Wiley & Sons Inc

E-ISSN： 1399-0004|93|2|412-416

ISSN： 0009-9163

Source： CLINICAL GENETICS, Vol.93, Iss.2, 2018-02, pp. : 412-416

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