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A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.
Int J Neonatal Screen. 2022 Jul 19;8(3):43. doi: 10.3390/ijns8030043.
Int J Neonatal Screen. 2022.
PMID: 35892473
Free PMC article.
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay.
Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C; Italian Undiagnosed Diseases Network; Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC.
Laboy Cintron D, et al. Among authors: goueli c.
HGG Adv. 2021 Nov 25;3(1):100072. doi: 10.1016/j.xhgg.2021.100072. eCollection 2022 Jan 13.
HGG Adv. 2021.
PMID: 35047857
Free PMC article.
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