Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease

Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease

Abstract Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay‒Sachs disease. The patient gradually became unable to consume food orally. She suffered severe aspiratio...

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Main Authors: Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai
Format: Article
Language:English
Published: Nature Publishing Group 2024-11-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00300-0
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