Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family
Acromesomelic dysplasias (AMDs) are rare skeletal disorders marked by disproportionate shortening of middle and distal limb segments. Among these, AMD Maroteaux type (AMDM), is commonly associated with mutations in NPR2 gene. However, mutations in the Indian Hedgehog (IHH) gene have been linked to s...
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| Autori principali: | , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Sciendo
2026-05-01
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| Serie: | Balkan Journal of Medical Genetics |
| Soggetti: | |
| Accesso online: | https://doi.org/10.2478/bjmg-2025-00024 |
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