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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_ | 1868552841991290880 |
|---|---|
| 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 |
| last_indexed | 2026-06-20T21:27:21.959Z |
| 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 |
| 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_alt | Identificación de una Nueva Variante Homocigótica de IHH que Causa una Nueva Displasia Esquelética Acromesomélica Tipo Maroteaux en una Familia Pakistaní Identification d'un nouveau variant homozygote d'IHH provoquant une nouvelle dysplasie squelettique acromésomélique de type Maroteaux dans une famille pakistanaise Identificação de uma Nova Variante Homozigótica do IHH Causando uma Nova Displasia Esquelética do Tipo Acromesomélica de Maroteaux em uma Família Paquistanesa |
| title_auth | Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family |
| title_es_txt | Identificación de una Nueva Variante Homocigótica de IHH que Causa una Nueva Displasia Esquelética Acromesomélica Tipo Maroteaux en una Familia Pakistaní |
| title_fr_txt | Identification d'un nouveau variant homozygote d'IHH provoquant une nouvelle dysplasie squelettique acromésomélique de type Maroteaux dans une famille pakistanaise |
| 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_pt_txt | Identificação de uma Nova Variante Homozigótica do IHH Causando uma Nova Displasia Esquelética do Tipo Acromesomélica de Maroteaux em uma Família Paquistanesa |
| 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 |