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Article

Genotype and phenotype heterogeneity in perrault syndrome.

Journal of pediatric and adolescent gynecology - 1 Feb 2013

Kim Min Jeong, Kim Sa Jin, Kim Jiyeon, Chae Hyojin, Kim Myungshin, Kim Yonggoo

Abstract excerpt

BACKGROUND: The hallmarks of Perrault syndrome are progressive sensorineural hearing loss and ovarian dysgenesis, but the disorder is both clinically and genetically heterogenous. CASE: We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome. We detected 14 single nucleotide variations including 2...

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Source

Identifiers

PMID: 23332201
DOI: 10.1016/j.jpag.2012.10.008

Genes

HARS2

Variants

Provenance

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