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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...
Autores principales: | Boniel, Snir, Szymańska, Krystyna, Śmigiel, Robert, Szczałuba, Krzysztof |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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 |
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