Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Stoupa A, Franca MM, Abdulhadi-Atwan M, Fujisawa H, Korwutthikulrangsri M, Marchand I, Polak G, Beltrand J, Polak M, Kariyawasam D, Liao XH, Raimondi C, Steigerwald C, Abreu NJ, Bauer AJ, Carré A, Taneja C, Mekhoubad AB, Dumitrescu AM.
Stoupa A, et al. Among authors: dumitrescu am.
Genet Med. 2024 Dec;26(12):101280. doi: 10.1016/j.gim.2024.101280. Epub 2024 Sep 21.
Genet Med. 2024.
PMID: 39315526
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