Výsledky vyhledávání - "Kris Pui-Tak Yu"

Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions

Autor: Kris Pui-Tak Yu, Jasmine L.F. Fung, Ivan Fai-Man Lo, Brian H.Y. Chung, Ho-Ming Luk

Publikováno v: European journal of medical genetics. 64(1)

Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, intellectual disability with poor or absent speech, feeding difficulties, growth failure, s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22874021475a24e8c20f02a4c895402b
https://pubmed.ncbi.nlm.nih.gov/33242595

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