Identification of a Novel Nonsense Mutation in the <i>IGSF1</i> Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family
<b>Background</b>: The immunoglobulin superfamily member 1 (<i>IGSF1</i>) gene encodes for a transmembrane glycoprotein involved in crucial processes such as growth, metabolism, and reproductive function. Loss-of-Function (LOF) mutations in the <i>IGSF1</i> gene have been reported to cause the X-lin...
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| Asıl Yazarlar: | , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
MDPI AG
2025-12-01
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| Seri Bilgileri: | Children |
| Konular: | |
| Online Erişim: | https://www.mdpi.com/2227-9067/12/12/1682 |
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