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Items: 3

1.
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature
Luisa Cortellazzo Wiel, Irene Bruno, Egidio Barbi, Fabio Sirchia
Ital J Pediatr. 2022; 48: 72. Published online 2022 May 12. doi: 10.1186/s13052-022-01267-w
PMCID:
PMC9097050
AbstractArticlePDF–766K
2.
9-year follow-up of uncommon cleft palate in Aarskog-Scott syndrome
Andreza-Maria-Fábio Aranha, Kadyja-de Assis Veiga, Maria-Angélica-Liesenberg Stefanini, Yolanda-Benedita-Abadia-Martins de Barros, Orlando-Aguirre Guedes
J Clin Exp Dent. 2023 Jul; 15(7): e594–e598. Published online 2023 Jul 1. doi: 10.4317/jced.60560
PMCID:
PMC10382167
AbstractArticlePDF–1.4M
3.
A novel FGD1 mutation in a family with Aarskog–Scott syndrome and predominant features of congenital joint contractures
Laurie Beth Griffin, Frances A. Farley, Anthony Antonellis, Catherine E. Keegan
Cold Spring Harb Mol Case Stud. 2016 Jul; 2(4): a000943. doi: 10.1101/mcs.a000943
PMCID:
PMC4990810
AbstractArticlePDF–1.0M

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