A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia.

Michelle Kayser,Preti Jain,Allen Bale,Thomas O Carpenter

JCEM case reports（2023）

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摘要

X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, is due to inactivation of PHEX,de novoPHEXPostnatal genetic testing confirmed presence of the deletion in the baby.PHEX

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clinical features,x-linked

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