Interstitial 14q31.3-q32.13 deletion

Aim: With the exception of ring chromosome 14 or translocations, interstitial deletions of the long arm of chromosome 14 are very rare. All patients with these deletions share common phenotypic characteristics, primarily mild dysmorphia and developmental delay. Molecular karyotyping (array CGH) enab...

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Permalink: http://skupni.nsk.hr/Record/nsk.NSK01001079626
Matična publikacija: Molecular and experimental biology in medicine
2 (2019), 1 ; str. 48-51
Glavni autori: Crkvenac Gornik, Kristina (Author), Tonković, Ivana, liječnica, Pokupec Bilić, Anita, Huljev Frković, Sanda
Vrsta građe: e-članak
Jezik: eng
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