Expanding the genotypic spectrum of Perrault syndrome

Clinical Genetics

Volumn 91, Issue 2, 2017, Pages 302-312

  Demain, L A M ^a   Urquhart, J E ^a   O'Sullivan, J ^a   Williams, S G ^a   Bhaskar, S S ^a   Jenkinson, E M ^a   Lourenco, C M ^b   Heiberg, A ^c   Pearce, S H ^d   Shalev, S A ^e,f   Yue, W W ^g   Mackinnon, S ^g   Munro, K J ^a,h   Newbury Ecob, R ⁱ   Becker, K ^j   Kim, M J ^k   O' Keefe, R T ^a   Newman, W G ^a,h  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e HAEMEK MEDICAL CENTER   (Israel)

^f TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^g UNIVERSITY OF OXFORD   (United Kingdom)

^h MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

ⁱ ST MICHAEL'S HOSPITAL   (United Kingdom)

^j Medical Genetic Center   (Germany)

^k The Catholic University of Korea   (South Korea)

more..

Author keywords

low frequency hearing loss; Perrault syndrome; primary ovarian insufficiency; sensorineural hearing loss

Indexed keywords

17BETA4 HYDROXYSTEROID DEHYDROGENASE; ARGININE; ASPARAGINE; C10ORF2 PROTEIN; CYSTEINE; ENDOPEPTIDASE CLP; GLUTAMINE; GLYCINE; HYDROXYSTEROID DEHYDROGENASE; ISOLEUCINE; LEUCINE TRANSFER RNA LIGASE; LEUCYL AMINOCYL TRNA SYNTHETASE; METHIONINE; MITOCHONDRIAL PROTEIN; PHENYLALANINE; SERINE; THREONINE; UNCLASSIFIED DRUG; VALINE; AMINO ACID TRANSFER RNA LIGASE; C10ORF2 PROTEIN, HUMAN; CLPP PROTEIN, HUMAN; DNA HELICASE; HSD17B4 PROTEIN, HUMAN; LARS2 PROTEIN, HUMAN; PEROXISOMAL MULTIFUNCTIONAL PROTEIN 2;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILY; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; MALE; MIDDLE AGED; NEUROLOGIC DISEASE; OPEN READING FRAME; PERCEPTION DEAFNESS; PERRAULT SYNDROME; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; SANGER SEQUENCING; YOUNG ADULT; EXOME; GENETICS; HOMOZYGOTE; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; XX GONADAL DYSGENESIS;

AMINO ACYL-TRNA SYNTHETASES; DNA HELICASES; ENDOPEPTIDASE CLP; EXOME; FEMALE; GENOTYPE; GONADAL DYSGENESIS, 46,XX; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; MALE; MITOCHONDRIAL PROTEINS; MUTATION; PEDIGREE; PEROXISOMAL MULTIFUNCTIONAL PROTEIN-2; PHENOTYPE; PRIMARY OVARIAN INSUFFICIENCY;

EID: 84962706770     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12776     Document Type: Article

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