Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

Journal of Medical Genetics

Volumn 53, Issue 6, 2016, Pages 419-425

  Di Donato, Nataliya ^a,b   Neuhann, Teresa ^c   Kahlert, Anne Karin ^a,d   Klink, Barbara ^a   Hackmann, Karl ^a   Neuhann, Irmingard ^e   Novotna, Barbora ^f   Schallner, Jens ^f   Krause, Claudia ^a   Glass, Ian A ^b,g   Parnell, Shawn E ^g   Benet Pages, Anna ^c   Nissen, Anke M ^c   Berger, Wolfgang ^h   Altmüller, Janine ⁱ   Thiele, Holger ⁱ   Weber, Bernhard H F ^j   Schrock, Evelin ^a   Dobyns, William B ^b,g   Bier, Andrea ^k   Rump, Andreas ^a   more..

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c Medical Genetic Center   (Germany)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^e Diagnostik München   (Germany)

^f UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^g UNIVERSITY OF WASHINGTON   (United States)

^h UNIVERSITY OF ZURICH   (Switzerland)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j UNIVERSITY OF REGENSBURG   (Germany)

^k Gemeinschaftspraxis Fü R Humangenetik   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RIBOSOME RNA; EXOSC2 PROTEIN, HUMAN; EXOSOME MULTIENZYME RIBONUCLEASE COMPLEX; RNA BINDING PROTEIN;

ARTICLE; BRACHYDACTYLY; CASE REPORT; DIFFERENTIAL DIAGNOSIS; EXOSOME COMPONENT 2 GENE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIATION; HEARING IMPAIRMENT; HUMAN; HYPOTHYROIDISM; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MARKER GENE; MISSENSE MUTATION; MYOPIA; PHENOTYPE; PREMATURE AGING; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SHORT STATURE; SYNDROME; DNA MUTATIONAL ANALYSIS; DWARFISM; EXOME; GENETIC PREDISPOSITION; GENETICS; MALE; PEDIGREE; PROCEDURES;

AGING, PREMATURE; DNA MUTATIONAL ANALYSIS; DWARFISM; EXOME; EXOSOME MULTIENZYME RIBONUCLEASE COMPLEX; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; RNA-BINDING PROTEINS; SYNDROME;

EID: 84958073326     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103511     Document Type: Article

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