Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1)

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 ca...

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Veröffentlicht in:	American journal of medical genetics. Part A 2015-05, Vol.167A (5), p.1033-1038
Hauptverfasser:	Ko, Jung Min, Bae, Jun-Seok, Choi, Jin Sun, Miura, Kohji, Lee, Hye Ran, Kim, Ok-Hwa, Kim, Nayoung KD, Oh, Sun Kyung, Ozono, Keiichi, Lee, Choon-Ki, Choi, In Ho, Park, Woong-Yang, Cho, Tae-Joon
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent C-type natriuretic peptide chromosome translocation Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 2 - genetics Female Gene Expression Regulation Haploinsufficiency Humans Karyotyping Loeys-Dietz syndrome Loeys-Dietz Syndrome - genetics Loeys-Dietz Syndrome - physiopathology Natriuretic Peptide, C-Type - biosynthesis Natriuretic Peptide, C-Type - blood Natriuretic Peptide, C-Type - genetics NPPC Phenotype TGFB2 Transforming Growth Factor beta2 - genetics Translocation, Genetic - genetics
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