IMAGE syndrome

Definition:

IMAGE syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an autosomal dominant undergrowth developmental disorder with life-threatening consequences and caused by mutations in CDKN1C.

References:

[1]. Valerie A Arboleda, et al. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788-92. [Content Brief]

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