Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.

doi:10.1016/j.ejmg.2024.104939

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Article

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.

European journal of medical genetics - 1 Jun 2024

Matsumoto Mio, Oyake Momoko, Itonaga Tomoyo, Maeda Miwako, Suenobu Soichi, Sato Daichi, Sasahara Yoji, Mishima Hiroyuki, Yoshiura Koh-Ichiro, Ihara Kenji

Abstract excerpt

ADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit...

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PMID: 38614309
DOI: 10.1016/j.ejmg.2024.104939

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