Marfanoid habitus is a nonspecific feature of Perrault syndrome
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DOI: 10.1097/mcd.0000000000000198
Abstract: 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… read more here.
Keywords: nonspecific feature; perrault syndrome; feature perrault; marfanoid habitus ... See more keywords