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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...

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Bibliografiset tiedot
Julkaisussa:J Pediatr Genet
Päätekijät: Güzel Erdal, Gülbahar, Balkan, Mahmut
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Georg Thieme Verlag KG 2020
Linkit: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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