Výsledky vyhledávání - "Damara R. Hamlin"

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

Autor: Latrice Wysinger, Soma Das, Marwan Shinawi, Christopher A. Tan, Agata Minor, Damara R. Hamlin, Shaun Botes, Kirsten Donato, Marisa Vineyard, Jacob S. Hogue, Daniela del Gaudio

Publikováno v: Gene. 537(2)

Cornelia de Lange syndrome (CdLS) is a developmental disorder characterized by limb reduction defects, characteristic facial features and impaired cognitive development. Mutations in the NIPBL gene predominate; however, mutations in other cohesin com

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3db3f5d13ff70697dc39257755d0f8b
https://pubmed.ncbi.nlm.nih.gov/24378232

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