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Article(2)
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American Journal of Medical Genetics, Part A(1)
Journal of Clinical Endocrinology and Metabolism(1)
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scopus(2)
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes
ArticleAbstract: Design, Setting, and Participants: Genomic DNA samples (15 affected and 26 unaffected from a six-genPalabras claves:Autores:Andres Zurita, Andrew S., Carolina Guevara, Dauber A., Geng J., Guo M., Hwa V., Jaime Guevara-Aguirre, Kerns S.L., Marco Guevara-Aguirre, Oddoux C., Ostrer H., Rosenfeld R.G., Shen Y.Fuentes:scopusThe E180splice mutation in the GHR gene causing laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
ArticleAbstract: Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gPalabras claves:Growth hormone insensitivity, Growth hormone receptor, Growth hormone receptor deficiency, Laron syndrome, Lineage markers, Mitochondrial haplogroups, Y-chromosome haplogroupsAutores:Arnhold I.J.P., Cassorla F., Damiani D., Fridman C., Gonçalves F.T., Hwa V., Jaime Guevara-Aguirre, Jorge A.A.L., Laron Z., Lins T.S.S., Pinto E.M., Rosembloom A.L., Rosenfeld R.G., Shevah O.Fuentes:scopus