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Kabuki Syndrome—Clinical Review with Molecular Aspects

Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and pro...

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Detalles Bibliográficos
Autores principales: Boniel, Snir, Szymańska, Krystyna, Śmigiel, Robert, Szczałuba, Krzysztof
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8064399/
https://www.ncbi.nlm.nih.gov/pubmed/33805950
http://dx.doi.org/10.3390/genes12040468