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Regions of homozygosity and a novel variant in Steel syndrome: An added dilemma to diagnosis
Steel syndrome is an autosomal recessive disorder that is caused by mutations in COL27A1 gene. The majority of reported cases have been of Puerto Rican origin, with few reports from India. The present case adds to the repertoire of homozygous recessive disorders from non-consanguineous Indian famili...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10259425/ https://www.ncbi.nlm.nih.gov/pubmed/36695248 http://dx.doi.org/10.4103/jpgm.jpgm_1153_21 |