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Anesthetic and dental management of a child with IMAGe syndrome.
Lindemeyer RG, Rashewsky SE, Louie PJ, Schleelein L. Lindemeyer RG, et al. Anesth Prog. 2014 Winter;61(4):165-8. doi: 10.2344/0003-3006-61.4.165. Anesth Prog. 2014. PMID: 25517553 Free PMC article.
IMAGe syndrome (OMIM 300290) is a rare multisystem disorder that has a broad phenotypic presentation. ...The purpose of this case report is to describe the successful anesthetic management of a pediatric patient diagnosed with IMAGe syndrome who presen …
IMAGe syndrome (OMIM 300290) is a rare multisystem disorder that has a broad phenotypic presentation. ...The purpose of this c …
Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
Binder G, Ziegler J, Schweizer R, Habhab W, Haack TB, Heinrich T, Eggermann T. Binder G, et al. Clin Epigenetics. 2020 Oct 19;12(1):152. doi: 10.1186/s13148-020-00945-y. Clin Epigenetics. 2020. PMID: 33076988 Free PMC article.
BACKGROUND: Pathogenic CDKN1C gain-of-function variants on the maternal allele were initially reported as a cause of IMAGe syndrome characterized by intrauterine growth retardation, metaphyseal dysplasia, primary adrenal insufficiency and genital anomalies. ...This …
BACKGROUND: Pathogenic CDKN1C gain-of-function variants on the maternal allele were initially reported as a cause of IMAGe syndrom …