EXOSC3 mutations in pontocerebellar hypoplasia type 1: Novel mutations and genotype-phenotype correlations

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Eggens, Veerle R C ^a   Barth, Peter G ^b   Niermeijer, Jikke Mien F ^b   Berg, Jonathan N ^c   Darin, Niklas ^d   Dixit, Abhijit ^e   Fluss, Joel ^f   Foulds, Nicola ^g   Fowler, Darren ^g   Hortobágyi, Tibor ^h   Jacques, Thomas ⁱ   King, Mary D ^j   Makrythanasis, Periklis ^k   Máté, Adrienn ^l   Nicoll, James A R ^m   O'Rourke, Declan ^j   Price, Sue ⁿ   Williams, Andrew N ⁿ   Wilson, Louise ⁱ   Suri, Mohnish ^e   Sztriha, Laszlo ^l   Dijns De Wissel, Marit B ^a   Van Meegen, Mia T ^a   Van Ruissen, Fred ^a   Aronica, Eleonora ^o   Troost, Dirk ^o   Majoie, Charles B L M ^a   Marquering, Henk A ^a   Poll Thé, Bwee Tien ^b   Baas, Frank ^a   more..

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^e NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^f Children's Hospital of Geneva   (Switzerland)

^g UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^h UNIVERSITY OF DEBRECEN   (Hungary)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^k UNIVERSITY OF GENEVA   (Switzerland)

^l UNIVERSITY OF SZEGED   (Hungary)

^m UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

ⁿ Department of Paediatrics   (United Kingdom)

^o Department of (Neuro)Pathology   (Netherlands)

more..

Author keywords

EXOSC3 gene; Genotype phenotype correlations; Neurodegeneration; Pontocerebellar hypoplasia

Indexed keywords

BRAIN; EXOSOME MULTIENZYME RIBONUCLEASE COMPLEX; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES; RNA-BINDING PROTEINS;

EID: 84894504906     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-23     Document Type: Article

References (14)

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