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Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
BACKGROUND: Waardenburg syndrome (WS) is a rare genetic disorder. The purpose of this study was to investigate clinical and molecular characteristics of WS in four probands from four different Iranian families. CASE PRESENTATION: The first patient was a 1-year-old symptomatic boy with congenital hea...
Tallennettuna:
| Julkaisussa: | BMC Pediatr |
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| Päätekijät: | , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2021
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7869501/ https://ncbi.nlm.nih.gov/pubmed/33557787 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-021-02521-6 |
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