Author:
Fallahtafti Parisa,Hashemi Seyedeh Melika,Rezaei Nima
Publisher
Springer International Publishing
Reference11 articles.
1. Arboleda VA et al (2012) Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet 44:788–792. https://doi.org/10.1038/ng.2275
2. Balasubramanian M, Sprigg A, Johnson DS (2010) IMAGe syndrome: case report with a previously unreported feature and review of published literature. Am J Med Genet A 152a:3138–3142. https://doi.org/10.1002/ajmg.a.33716
3. Bergadá I, Del Rey G, Lapunzina P, Bergadá C, Fellous M, Copelli S (2005) Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. J Clin Endocrinol Metab 90:3186–3190. https://doi.org/10.1210/jc.2004-1589
4. Borges KS, Arboleda VA, Vilain E (2015) Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. Cell Div 10:2. https://doi.org/10.1186/s13008-015-0008-8
5. Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies; IMAGE. https://www.omim.org/entry/614732#:~:text=%E2%96%BC%20Description,adrenal%20hypoplasia%2C%20and%20genital%20anomalies. Accessed 6 Sep 2022