Výsledky vyhledávání - "Kyaran Van Meensel"

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

Autor: Piet Hoebeke, Aude Beyens, Sofie De Schepper, Sofie Symoens, Lore Pottie, Kyaran Van Meensel, Bart Loeys, Frank Plasschaert, Michiel De Bruyne, Bert Callewaert, Riet De Rycke, Femke Baeke

Publikováno v: Genes
Volume 10
Issue 7
Genes, Vol 10, Iss 7, p 528 (2019)
GENES

Occipital horn syndrome (OHS) is a rare connective tissue disorder caused by pathogenic variants in ATP7A, encoding a copper transporter. The main clinical features, including cutis laxa, bony exostoses, and bladder diverticula are attributed to a de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eb8c7fce99e884fced9a71b9de6b8b5
http://europepmc.org/articles/PMC6678539

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