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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12.
Am J Hum Genet. 2024.
PMID: 38479391
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
Priestley JRC, Adang LA, Drewes Williams S, Lichter-Konecki U, Menello C, Engelhardt NM, DiPerna JC, DiBoscio B, Ahrens-Nicklas RC, Edmondson AC, Reynoso Santos FJ, Ficicioglu C.
Priestley JRC, et al. Among authors: drewes williams s.
Int J Neonatal Screen. 2022 Mar 23;8(2):24. doi: 10.3390/ijns8020024.
Int J Neonatal Screen. 2022.
PMID: 35466195
Free PMC article.
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