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Article

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

Clinical endocrinology - 1 May 2014

Kato Fumiko, Hamajima Takashi, Hasegawa Tomonobu, Amano Naoko, Horikawa Reiko, Nishimura Gen, Nakashima Shinichi, Fuke Tomoko, Sano Shinichirou, Fukami Maki, Ogata Tsutomu

Abstract excerpt

OBJECTIVE: Arboleda et al. have recently shown that IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome is caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5. However, there is...

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PMID: 24313804
DOI: 10.1111/cen.12379

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24313804-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.PMID 24313804Read ↗

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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.Semantic proximity Read ↗

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.Semantic proximity Read ↗

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Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phaseSemantic proximity Read ↗

Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.Semantic proximity Read ↗

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