Article
Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).
American journal of medical genetics. Part A - 1 May 2015
Ko Jung Min, Bae Jun-Seok, Choi Jin Sun, Miura Kohji, Lee Hye Ran, Kim Ok-Hwa, Kim Nayoung K D, Oh Sun Kyung, Ozono Keiichi, Lee Choon-Ki, Choi In Ho, Park Woong-Yang, Cho Tae-Joon
Abstract excerpt
Chromosomal translocation of 2q37.1 just distal to the NPPC gene coding for C-type natriuretic peptide (CNP) and subsequent overproduction of CNP have been reported to cause a skeletal overgrowth syndrome. Loeys-Dietz syndrome (LDS) is one of marfanoid overgrowth syndromes, of which subtype IV is caused by haploinsufficiency of transforming growth factor beta 2 (TGFB2). We report on a girl with clinical...
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