Total: 1 |
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PMID (PMCID) | ||
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23332201 |
FEMALE | |
Genotype and phenotype heterogeneity in perrault syndrome. | ||
Kim MJ, Kim SJ, Kim J, Chae H, Kim M, Kim Y. J Pediatr Adolesc Gynecol. 2013;26(1):e25-7. |
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We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome. |