Genetic Counselling and Prenatal Diagnosis in a Case of Harlequin Ichthyosis: A Novel ABCA12 Gene Mutation
Hereditary diseases are disorders that mainly result from mutations or changes in Deoxyribonulciec Acid (DNA), Ribonucleic Acid (RNA), or chromosomes, which impact the overall and physical welfare of an individual. One such severe inherited skin disease is Harlequin Ichthyosis (HI), which is charact...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2025-02-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://www.jcdr.net/articles/PDF/20614/74521_CE[Ra1]_F(SL)_QC(PS_SS)_PF1(VD_OM)_PFA_NC(IS)_PN(IS).pdf |
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