Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd..
A novel homozygous variant in KIFBP was identified in a consanguineous family with four sibs affected by Goldberg-Sphrintzen Syndrome (GOSHS). We report for the first time, early-adulthood-onset progressive ataxia, opthalmoparesis, and hypogonadotropic hypogonadism in GOSHS.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:105 |
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| Enthalten in: |
Clinical genetics - 105(2024), 2 vom: 08. Feb., Seite 228-230 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ooi, Joshua Chin Ern [VerfasserIn] |
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| Links: |
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| Themen: |
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| Anmerkungen: |
Date Completed 08.01.2024 Date Revised 09.04.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1111/cge.14448 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a A novel homozygous variant in KIFBP was identified in a consanguineous family with four sibs affected by Goldberg-Sphrintzen Syndrome (GOSHS). We report for the first time, early-adulthood-onset progressive ataxia, opthalmoparesis, and hypogonadotropic hypogonadism in GOSHS | ||
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