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Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.
Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, Wit JM, Hokken-Koelega AC, Losekoot M. Ester WA, et al. Among authors: govaerts lc. J Clin Endocrinol Metab. 2009 Dec;94(12):4717-27. doi: 10.1210/jc.2008-1502. Epub 2009 Oct 28. J Clin Endocrinol Metab. 2009. PMID: 19864454
Phenotype-genotype correlation in a familial IGF1R microdeletion case.
Veenma DC, Eussen HJ, Govaerts LC, de Kort SW, Odink RJ, Wouters CH, Hokken-Koelega AC, de Klein A. Veenma DC, et al. Among authors: govaerts lc. J Med Genet. 2010 Jul;47(7):492-8. doi: 10.1136/jmg.2009.070730. Epub 2009 Dec 2. J Med Genet. 2010. PMID: 19955558
Prenatal and postnatal findings in small-for-gestational-age fetuses without structural ultrasound anomalies at 18-24 weeks.
de Wit MC, Srebniak MI, Joosten M, Govaerts LC, Kornelisse RF, Papatsonis DN, de Graaff K, Knapen MF, Bruggenwirth HT, de Vries FA, Van Veen S, Van Opstal D, Galjaard RJ, Go AT. de Wit MC, et al. Among authors: govaerts lc. Ultrasound Obstet Gynecol. 2017 Mar;49(3):342-348. doi: 10.1002/uog.15949. Ultrasound Obstet Gynecol. 2017. PMID: 27102944 Free article.
Another rare prenatal case of post-zygotic mosaic trisomy 17.
de Vries FA, Govaerts LC, Knijnenburg J, Knapen MF, Oudesluijs GG, Lont D, Noomen P, de Graaff K, Srebniak MI, Van Opstal D. de Vries FA, et al. Among authors: govaerts lc. Am J Med Genet A. 2013 May;161A(5):1196-9. doi: 10.1002/ajmg.a.35867. Epub 2013 Mar 20. Am J Med Genet A. 2013. PMID: 23512336 No abstract available.
85 results