Marfanoid habitus is a nonspecific feature of Perrault syndrome. [electronic resource]
Producer: 20180705Description: 200-204 p. digitalISSN:- 1473-5717
- Adolescent
- Amino Acid Sequence
- Amino Acyl-tRNA Synthetases -- chemistry
- Base Sequence
- Female
- Genotype
- Gonadal Dysgenesis, 46,XX -- complications
- Hearing Loss, Sensorineural -- complications
- Humans
- Male
- Marfan Syndrome -- complications
- Pedigree
- Phenotype
- Reproducibility of Results
- Exome Sequencing
- Young Adult
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Publication Type: Case Reports; Journal Article
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