Missing Heritability in Albinism Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease /
Albinism is characterized by a variable degree of hypopigmentation affecting the skin and the hair, and causing ophthalmologic abnormalities. Its oculocutaneous, ocular and syndromic forms follow an autosomal or X-linked recessive mode of inheritance, and 22 disease-causing genes are implicated in t...
Elmentve itt :
| Szerzők: | |
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| Dokumentumtípus: | Cikk |
| Megjelent: |
2024
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| Sorozat: | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
25 No. 2 |
| Tárgyszavak: | |
| doi: | 10.3390/ijms25021271 |
| mtmt: | 34531433 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/30097 |