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Turner Syndrome with Isochromosome Xq
Short stature and growth retardation in girls commonly occur in patients with Turner syndrome. We present a 19-year-old-girl with primary amenorrhea and growth retardation, who has a mosaic karyotype, 46X,i(Xq)[17]/45,X[8]. Classic Turner syndrome has a more severe phenotype than variant causes of T...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | J Pediatr Genet |
|---|---|
| Prif Awduron: | , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Georg Thieme Verlag KG
2020
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| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7396462/ https://ncbi.nlm.nih.gov/pubmed/32765927 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-3399496 |
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