Clinical manifestations in a Chinese girl with heterozygous de novo NAA10 variant c. 247C > T, p. (Arg83Cys): a case report

Authors: Kaiyan Wei, Chaochun Zou

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: NAA10, NAA10-related syndrome, n-terminal acetylation, ogden syndrome, case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1198906/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/6ce33088bda54d8486cfcf1961bbd954

Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome

Authors: Jagoda Hofman, Michal Hutny, Karolina Chwialkowska, Urszula Korotko, Karolina Loranc, Anna Kruk, Urszula Lechowicz, Adriana Rozy, Pawel Gajdanowicz, Miroslaw Kwasniewski, Malgorzata Krajewska-Walasek, Justyna Paprocka, Aleksandra Jezela-Stanek

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: Ogden syndrome, NAA10 gene, progeroid appearance, feeding difficulties, pulmonary infections, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.979377/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/b524523f909746e596e82e08b80a747a

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