Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β‐hydroxylase deficiency and vitamin D‐resistant bone rickets

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62nd Annual ESPE (ESPE 2024)

Henning Andersen Award Winners

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A novel human disorder: QSOX2 deficiency‐induced growth restriction, gastrointestinal dysmotility and immune dysfunction highlights a new mechanism of disease.

hrp0098ha1 | Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β‐hydroxylase deficiency and vitamin D‐resistant bone rickets

Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β-hydroxylase deficiency and vitamin D-resistant bone rickets

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ESPE Abstracts

62nd Annual ESPE (ESPE 2024)

Henning Andersen Award Winners

Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β‐hydroxylase deficiency and vitamin D‐resistant bone rickets

Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β-hydroxylase deficiency and vitamin D-resistant bone rickets

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