Výsledky vyhledávání - "Brett Chirempes"

A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33)

Autor: Jess F. Peterson, Brett Chirempes, Rachel B. Lorier, David P. Bick, John W. Grignon, Ulrike P. Kappes, Donald Basel, LuAnn Weik, Nykula Zemlicka

Publikováno v: Journal of Pediatric Genetics. :023-028

We report a 19-year-old female patient with a history of short stature, primary ovarian insufficiency, sensorineural hearing loss, sacral teratoma, neurogenic bladder, and intellectual disability with underlying mosaicism for der(X)t(X;3)(q13.2;q25.3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b90f5d9d40e38520888ef21b8cc141
https://doi.org/10.1055/s-0037-1604448

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