PubMed for id: 55906

Year	Number of Results
1991	1
1992	1
1994	1
1999	1
2002	2
2003	1
2004	3
2005	3
2006	1
2007	2
2009	1
2010	1
2011	3
2013	2
2014	2
2015	3
2016	1
2017	5
2018	2
2019	3
2020	5
2021	2
2022	2
2023	1
2024	0

1

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.

Godfrey D, Torres A, Heidary G, Zahoor H, Lee A, Berry G, Engle E. Godfrey D, et al. Ophthalmic Genet. 2021 Oct;42(5):612-614. doi: 10.1080/13816810.2021.1923040. Epub 2021 May 5. Ophthalmic Genet. 2021. PMID: 33949289 Free PMC article.

2

A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation.

Okubo Y, Endo W, Inui T, Suzuki-Muromoto S, Miyabayashi T, Togashi N, Sato R, Arai-Ichinoi N, Kikuchi A, Kure S, Haginoya K. Okubo Y, et al. Brain Dev. 2018 Apr;40(4):334-338. doi: 10.1016/j.braindev.2017.11.011. Epub 2017 Dec 16. Brain Dev. 2018. PMID: 29254829

3

ZC4H2 deletions can cause severe phenotype in female carriers.

Zanzottera C, Milani D, Alfei E, Rizzo A, D'Arrigo S, Esposito S, Pantaleoni C. Zanzottera C, et al. Am J Med Genet A. 2017 May;173(5):1358-1363. doi: 10.1002/ajmg.a.38155. Epub 2017 Mar 27. Am J Med Genet A. 2017. PMID: 28345801

4

Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31.

Miles JH, Carpenter NJ. Miles JH, et al. Am J Med Genet. 1991 Feb-Mar;38(2-3):215-23. doi: 10.1002/ajmg.1320380209. Am J Med Genet. 1991. PMID: 2018061

5

The Zinc-Finger Domain Containing Protein ZC4H2 Interacts with TRPV4, Enhancing Channel Activity and Turnover at the Plasma Membrane.

Vangeel L, Janssens A, Lemmens I, Lievens S, Tavernier J, Voets T. Vangeel L, et al. Int J Mol Sci. 2020 May 18;21(10):3556. doi: 10.3390/ijms21103556. Int J Mol Sci. 2020. PMID: 32443528 Free PMC article.

6

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM. Frints SGM, et al. Hum Mutat. 2019 Dec;40(12):2270-2285. doi: 10.1002/humu.23841. Epub 2019 Aug 21. Hum Mutat. 2019. PMID: 31206972 Free PMC article.

7

A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis.

Lombard Z, Park C, Makova KD, Ramsay M. Lombard Z, et al. Biol Direct. 2011 Jun 13;6:30. doi: 10.1186/1745-6150-6-30. Biol Direct. 2011. PMID: 21668950 Free PMC article.

8

Zinc fingers as biologic redox switches?

Kröncke KD, Klotz LO. Kröncke KD, et al. Antioxid Redox Signal. 2009 May;11(5):1015-27. doi: 10.1089/ARS.2008.2269. Antioxid Redox Signal. 2009. PMID: 19132878 Review.

9

Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression.

Li Y, Yang C, Wang H, Zhao L, Kong Q, Cang Y, Zhao S, Lv L, Li Y, Mao B, Ma P. Li Y, et al. J Mol Cell Biol. 2022 Apr 5;14(1):mjab082. doi: 10.1093/jmcb/mjab082. J Mol Cell Biol. 2022. PMID: 35040952 Free PMC article.

10

Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.

Wongkittichote P, Choi TI, Kim OH, Riley K, Koeberl D, Narayanan V, Ramsey K, Balak C, Schwartz CE, Cueto-Gonzalez AM, Casadesus FM, Kim CH, Shinawi MS. Wongkittichote P, et al. Clin Genet. 2023 Feb;103(2):167-178. doi: 10.1111/cge.14248. Epub 2022 Oct 31. Clin Genet. 2023. PMID: 36250278

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