LARS2-Perrault syndrome: a new case report and literature review

LARS2-Perrault syndrome: a new case report and literature review

Abstract Background Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different genes have been identified: HARS2, HSD17B4, CLLP, C10orf, ERAL1, TWNK and...

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Main Authors: Maria Teresa Carminho-Rodrigues (Author), Phillipe Klee (Author), Sacha Laurent (Author), Michel Guipponi (Author), Marc Abramowicz (Author), Hélène Cao-van (Author), Nils Guinand (Author), Ariane Paoloni-Giacobino (Author)
Format: Book
Published: BMC, 2020-05-01T00:00:00Z.
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3rd Floor Main Library

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