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The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
We report the case of the third patient with Tsukahara-Azuno-Kaiji syndrome. It is characterized by brachydactyly A1, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss. The first patient was reported in 1989, and the second in 2010. The present patient had many fea...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Elsevier
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8593260/ https://www.ncbi.nlm.nih.gov/pubmed/34815823 http://dx.doi.org/10.1016/j.radcr.2021.10.020 |