Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

American Journal of Human Genetics

Volumn 97, Issue 4, 2015, Pages 535-545

  Ratbi, Ilham ^a   Falkenberg, Kim D ^b   Sommen, Manou ^c   Al Sheqaih, Nada ^d,e   Guaoua, Soukaina ^a   Vandeweyer, Geert ^c   Urquhart, Jill E ^d,e   Chandler, Kate E ^d,e   Williams, Simon G ^d,e   Roberts, Neil A ^d,e   El Alloussi, Mustapha ^f,g   Black, Graeme C ^d,e   Ferdinandusse, Sacha ^b   Ramdi, Hind ^f   Heimler, Audrey ^h   Fryer, Alan ⁱ   Lynch, Sally Ann ^j,k   Cooper, Nicola ^l   Ong, Kai Ren ^l   Smith, Claire E L ^m   Inglehearn, Christopher F ^m   Mighell, Alan J ^m   Elcock, Claire ⁿ   Poulter, James A ^m   Tischkowitz, Marc ^o,p   Davies, Sally J ^q   Sefiani, Abdelaziz ^a,r   Mironov, Aleksandr A ^e   Newman, William G ^d,e   Waterham, Hans R ^b   Van Camp, Guy ^c   more..

^a MOHAMMED V UNIVERSITY   (Morocco)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d ST MARY S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f MOHAMMED V UNIVERSITY IN RABAT   (Morocco)

^g MILITARY HOSPITAL MOHAMMED V   (Morocco)

^h LONG ISLAND JEWISH MEDICAL CENTER   (United States)

ⁱ LIVERPOOL WOMEN'S NHS FOUNDATION TRUST   (United Kingdom)

^j OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^k CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^l BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^m UNIVERSITY OF LEEDS   (United Kingdom)

ⁿ UNIVERSITY OF SHEFFIELD   (United Kingdom)

^o UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^p ADDENBROOKE S HOSPITAL   (United Kingdom)

^q UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^r INSTITUT NATIONAL D HYGIÈNE   (Morocco)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; BLOOD ANALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISORDERS OF PEROXISOMAL FUNCTIONS; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEIMLER SYNDROME; HUMAN; HUMAN CELL; MALE; PEDIGREE; PEROXISOME; PEX1 GENE; PEX6 GENE; PLEIOTROPY; PRIORITY JOURNAL; SCHOOL CHILD; SKIN FIBROBLAST; YOUNG ADULT; AMELOGENESIS IMPERFECTA; CASE CONTROL STUDY; CELL CULTURE; COMPARATIVE STUDY; FIBROBLAST; FOLLOW UP; GENETICS; INFANT; METABOLISM; MUTATION; NAIL DISEASE; NEWBORN; PATHOLOGY; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PROGNOSIS; SURVIVAL RATE;

ADENOSINE TRIPHOSPHATASE; MEMBRANE PROTEIN; PEX1 PROTEIN, HUMAN; PEX6 PROTEIN, HUMAN;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AMELOGENESIS IMPERFECTA; CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; FOLLOW-UP STUDIES; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUTATION; NAILS, MALFORMED; PEDIGREE; PEROXISOMES; PHENOTYPE; PROGNOSIS; SURVIVAL RATE; YOUNG ADULT;

EID: 84952715180     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.08.011     Document Type: Article

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