Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome

R. Mathys; H. Deconinck; Kathelijn Keymolen; Anna Jansen; Hilde Van Esch

Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome

R. Mathys, H. Deconinck, Kathelijn Keymolen, Anna Jansen, Hilde Van Esch

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8 Citations (Scopus)

Abstract

We present the ophthalmologic findings in a boy with a deletion of Xp22 comprising the gene for Nance-Horan syndrome. Different mechanisms underlying the visual impairment in Nance-Horan syndrome are discussed.

Original language	English
Pages (from-to)	49-53
Number of pages	5
Journal	Bull Soc Belge Ophtalmol
Volume	305
Publication status	Published - 2007

Keywords

Nance Horan syndrome
CDKL5

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title = "Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome",

abstract = "We present the ophthalmologic findings in a boy with a deletion of Xp22 comprising the gene for Nance-Horan syndrome. Different mechanisms underlying the visual impairment in Nance-Horan syndrome are discussed.",

keywords = "Nance Horan syndrome, CDKL5",

author = "R. Mathys and H. Deconinck and Kathelijn Keymolen and Anna Jansen and {Van Esch}, Hilde",

year = "2007",

language = "English",

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pages = "49--53",

journal = "Bull Soc Belge Ophtalmol",

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T1 - Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome

AU - Mathys, R.

AU - Deconinck, H.

AU - Keymolen, Kathelijn

AU - Jansen, Anna

AU - Van Esch, Hilde

PY - 2007

Y1 - 2007

N2 - We present the ophthalmologic findings in a boy with a deletion of Xp22 comprising the gene for Nance-Horan syndrome. Different mechanisms underlying the visual impairment in Nance-Horan syndrome are discussed.

AB - We present the ophthalmologic findings in a boy with a deletion of Xp22 comprising the gene for Nance-Horan syndrome. Different mechanisms underlying the visual impairment in Nance-Horan syndrome are discussed.

KW - Nance Horan syndrome

KW - CDKL5

M3 - Article

SN - 0081-0746

VL - 305

SP - 49

EP - 53

JO - Bull Soc Belge Ophtalmol

JF - Bull Soc Belge Ophtalmol

ER -

Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome

Abstract

Keywords

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