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Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family
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| Published in: | Balkan Journal of Medical Genetics |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| Subjects: | |
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| _version_ | 1867301677518815236 |
|---|---|
| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Balkan Journal of Medical Genetics |
| description | |
| discipline_display | Medical Geneticsx |
| discipline_facet | Medical Geneticsx |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:62507 |
| institution | FRELIP |
| journal_source_facet | Balkan Journal of Medical Genetics |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family Medical Geneticsx General Medical Geneticsx |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Medical Geneticsx General Medical Geneticsx Medical Geneticsx General Medical Geneticsx |
| subject_facet | Medical Geneticsx General Medical Geneticsx |
| title | Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family |
| title_auth | Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family |
| title_full | Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family |
| title_fullStr | Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family |
| title_full_unstemmed | Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family |
| title_short | Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family |
| title_sort | identification of a novel homozygous ihh variant causing novel acromesomelic maroteaux-type skeletal dysplasia in a pakistani family |
| topic | Medical Geneticsx General Medical Geneticsx |
| url | https://sciendo.com/article/10.2478/bjmg-2025-00024 |