" /> Eiken syndrome - CISMeF





Preferred Label : Eiken syndrome;

Symbol : EKNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Eiken skeletal dysplasia; Bone modeling defect of hands and feet;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the parathyroid hormone receptor-1 gene (PTHR1, 168468.0009);

Prefixed ID : #600002;

Details


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03/05/2025


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