Marfan Syndrome Caused by Disruption of the <i>FBN1</i> Gene due to A Reciprocal Chromosome Translocation

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Marfan Syndrome Caused by Disruption of the <i>FBN1</i> Gene due to A Reciprocal Chromosome Translocation

Marfan syndrome (MFS) is a hereditary connective tissue disease caused by heterozygous mutations in the fibrillin-1 gene (<i>FBN1</i>) located on chromosome 15q21.1. A complex chromosomal rearrangement leading to MFS has only been reported in one case so far. We report on a mother and da...

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Auteurs principaux:	Anna Clara Schnause, Katalin Komlosi, Barbara Herr, Jürgen Neesen, Paul Dremsek, Thomas Schwarz, Andreas Tzschach, Sabine Jägle, Ekkehart Lausch, Judith Fischer, Birgitta Gläser
Format:	article
Langue:	EN
Publié:	MDPI AG 2021
Sujets:	<i>FBN1</i> Marfan syndrome apparently balanced chromosomal rearrangements (ABCR) optical genome mapping (OGM) gene disruption Genetics QH426-470
Accès en ligne:	https://doaj.org/article/420d3776f61b410daa13a92f8140dc7b
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!

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