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Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome
We report a detailed phenotypic, cytogenetic and molecular characterization of a patient prenatally diagnosed with Turner syndrome (TS). In addition to having typical TS clinical characteristics including webbed neck, high arched palate and coarctation of the aorta, the patient had features less fre...
Autores principales: | Siller, Alejandro F., Shimony, Alex, Shinawi, Marwan, Amarillo, Ina, Dehner, Louis P., Semenkovich, Katherine, Arbeláez, Ana María |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398186/ https://www.ncbi.nlm.nih.gov/pubmed/29739732 http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0005 |
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