Výsledky vyhledávání - "L. J. J. M. Wenniger-Prick"

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: Dose effect of the PAX6 gene product?

Autor: L. J. J. M. Wenniger-Prick, Cora M. Aalfs, Veronica van Heyningen, S. Sluijter, Raoul C.M. Hennekam, J. Fantes, Jan M.N. Hoovers

Publikováno v: American journal of medical genetics, 73(3), 267-271. Wiley-Liss Inc.

We report on a girl with a duplication of chromosome band 11p12→13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6). The girl had borderline developmental delay, mild facial anomalies, and eye abnormalities. Eye findings were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5c79da6c9ced7cfb88f36d93c2ffe1e
https://doi.org/10.1002/(sici)1096-8628(19971219)73:3<267::aid-ajmg7>3.0.co

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