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-Reference-Cited by-同舟云学术

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

Published:2021-05-05 Issue:5 Volume:42 Page:612-614
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Godfrey Deena¹^ORCID,Torres Alcy²,Heidary Gena³,Zahoor Hovra²,Lee Arthur⁴,Berry Gerard⁵,Engle Elizabeth³⁴⁶⁷

Affiliation:

1. Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA

2. Department of Pediatrics, Boston Medical Center, Boston, Massachusetts, USA

3. Ophthalmology, Boston Children’s Hospital, Boston, Massachusetts, USA

4. Neurology, Boston Children’s Hospital, Boston, Massachusetts, USA

5. Metabolism, Boston Children’s Hospital, Boston, Massachusetts, USA

6. Children's Hospital/Harvard Medical School, Enders 5 - The Children's Hospital, Boston, Massachusetts, USA

7. Department of ophthalmology, Howard Hughes Medical Institute - Carnegie Institution of Washington, Baltimore, Massachusetts, USA

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1923040

Reference15 articles.

1. Human Genetic Disorders of Axon Guidance

2. Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies

3. Arthrogryposis multiplex congenita: Spectrum of pathologic changes

4. Duane's retraction syndrome and arthrogryposis multiplex congenita

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1. Genotype-Phenotype Correlations and Sex Differences in ZC4H2-Associated Rare Disorder;Pediatric Neurology;2024-09

2. Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish;Journal of Human Genetics;2023-10-18

3. Clinical case of Wieacker–Wolff syndrome in a 5-year girl;L.O. Badalyan Neurological Journal;2023-08-30

4. Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord;Clinical Genetics;2022-10-31

5. Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene;Genes;2022-08-29