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Expanding the mutational spectrum of FHONDA syndrome.

• Authors : Shoji, Marissa K.¹ (AUTHOR) ; Khodeiry, Mohamed M.¹ (AUTHOR); Sengillo, Jesse D.¹ (AUTHOR)

• Source: Ophthalmic Genetics. Dec2023, Vol. 44 Issue 6, p602-605. 4p.

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A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects

• Authors : Guardia, Ana; Fernández, Almudena; Seruggia, Davide ...

Subjects: Foveal hypoplasia; optic nerve decussation defects; and anterior segment dysgenesis (FHONDA)

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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

• Authors : Kruijt, Charlotte C.; Gradstein, Libe; Bergen, Arthur A. ...

Subjects: FHONDA; Foveal hypoplasia; Melanin

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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences. ; Invest Ophthalmol Vis Sci

• Authors : KRUIJT, Charlotte C; GRADSTEIN, Libe; BERGEN, Arthur A

Subjects: SLC38A8; FHONDA; Foveal hypoplasia

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Altered organization of the visual cortex in FHONDA syndrome

• Authors : Ahmadi, Khazar; Fracasso, Alessio; van Dijk, Jelle A.

Subjects: FHONDA; fMRI; Plasticity

• Source: Ahmadi , K , Fracasso , A , van Dijk , J A , Kruijt , C , van Genderen , M , Dumoulin , S O & Hoffmann , M B 2019 , ' Altered organization of the visual cortex in FHONDA

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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study

• Authors : Helen J Kuht; Gail D E Maconachie; Jinu Han

Subjects: Albinism; Ocular* / diagnosis; Ocular* / genetics

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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study

• Authors : Kuht, Helen J.; Maconachie, Gail D.E.; Han, Jinu ...

Subjects: AHR; Albinism; Aniridia

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Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis

• Authors : Rebecca A. Shields; Kara M. Cavuoto; Ta C. Chang

Subjects: Decussation; congenital, hereditary, and neonatal diseases and abnormalities; medicine.medical_specialty

• Source: Clinical Case Reports

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Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis.

• Authors : Shields, Rebecca A.¹; Cavuoto, Kara M.¹; McKeown, Craig A.¹

• Source: Clinical Case Reports. Jul2015, Vol. 3 Issue 7, p676-678. 3p.

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Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse.

• Authors : Fernández, Almudena^1,2 (AUTHOR); Hayashi, Masahiro³ (AUTHOR); Garrido, Gema^1,2 (AUTHOR)

• Source: Pigment Cell & Melanoma Research. Jul2021, Vol. 34 Issue 4, p786-799. 14p.

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