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
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome
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DOI: 10.1111/cge.12867
Abstract: Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss in males and females. In many PS subjects, causative variants have not been found in… read more here.
Keywords: perrault syndrome; perrault; cldn14 collectively; sgo2 cldn14 ... See more keywords
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
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DOI: 10.1186/s12881-017-0453-0
Abstract: BackgroundPerrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically.Case presentationWe reported a… read more here.
Keywords: perrault syndrome; variant; family; type ... See more keywords