A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement
Author:
Funder
Ministero della Salute
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10072-024-07457-0.pdf
Reference7 articles.
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2. Piccolo G, d’Annunzio G, Amadori E, Riva A, Borgia P, Tortora D, Maghnie M, Minetti C, Gitto E, Iacomino M, Baldassari S, Fiorillo C, Zara F, Striano P, Salpietro V (2021) Neuromuscular and neuroendocrinological features associated with ZC4H2-related arthrogryposis multiplex congenita in a Sicilian family: a case report. Front Neurol 12:704–747. https://doi.org/10.3389/fneur.2021.704747
3. Zanzottera C, Milani D, Alfei E, Rizzo A, D’Arrigo S, Esposito S, Pantaleoni C (2019) ZC4H2 deletions can cause severe phenotype in female carriers. Am J Med Genet A 173:1358–63. https://doi.org/10.1002/ajmg.a.38155
4. Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM (2013) ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet 92:681–695. https://doi.org/10.1016/j.ajhg.2013.03.021
5. Sun JJ, Cai Q, Xu M, Liu YN, Li WR, Li J, Ma L, Cai C, Gong XH, Zeng YT, Ren ZR, Zeng F (2022) Loss of protein function causing severe phenotypes of female-restricted Wieacker Wolff syndrome due to a novel nonsense mutation in the ZC4H2 gene. Genes (Basel) 29 13(9):1558. https://doi.org/10.3390/genes13091558
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