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The International Journal on Orbital Disorders, Oculoplastic and Lacrimal Surgery
Volume 41, 2022 - Issue 6
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Case Report

Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2

Matthew A. De Nieara Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, Tennessee, USA;b Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USAView further author information
,
James J. Lawb Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA;c School of Medicine, Vanderbilt University, Nashville, Tennessee, USAView further author information
,
Ty W. Abelb Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA;d Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee, USAView further author information
&
Louise A. Mawnb Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA;c School of Medicine, Vanderbilt University, Nashville, Tennessee, USA;e Department of Neurological Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, USACorrespondence[email protected]
View further author information
Pages 779-782 | Received 17 Apr 2021, Accepted 03 May 2021, Published online: 07 Jun 2021

References

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  • Rohena L, Kuehn D, Marchegiani S, Higginson JD. Evidence for autosomal dominant inheritance of Ablepharon-Macrostomia syndrome. Am J Med Genet Part A. 2011;155A(4):850–854. doi:10.1002/ajmg.a.33900.
  • McCarthy GT, West CM. Ablepharon macrostomia syndrome. Dev Med Child Neurol. 1977;19(5):659–663. doi:10.1111/j.1469-8749.1977.tb07999.x.
  • Cruz AAV, Quiroz D, Boza T, Wambier SP, Akaishi PS. Long-term results of the surgical management of the upper eyelids in” Ablepharon”-Macrostomia syndrome. Ophthalmic Plast Reconstr Surg. 2019. doi:10.1097/IOP.0000000000001442.

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