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Article

Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Clinical dysmorphology - 1 Oct 2017

Zerkaoui Maria, Demain Leigh A M, Cherkaoui Jaouad Imane, Ratbi Ilham, Amjoud Karima, Urquhart Jill E, O'Sullivan James, Newman William G, Sefiani Abdelaziz

Abstract excerpt

The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Data analysis was carried out and confirmed by Sanger sequencing and...

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Source

Identifiers

PMID: 28832386
DOI: 10.1097/MCD.0000000000000198

Genes

LARS2

Variants

Provenance

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