Wolfram syndrome: New mutations, different phenotype

PLoS ONE

Volumn 7, Issue 1, 2012, Pages

  Aloi, Concetta ^a   Salina, Alessandro ^a   Pasquali, Lorenzo ^a,b   Lugani, Francesca ^a,c,d   Perri, Katia ^a   Russo, Chiara ^a   Tallone, Ramona ^a   Ghiggeri, Gian Marco ^d   Lorini, Renata ^a   d'Annunzio, Giuseppe ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ALANINE; CYTOSINE; VALINE;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ARTICLE; BRAIN SIZE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COMORBIDITY; DIABETES INSIPIDUS; DISEASE SEVERITY; EXON; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPOPHYSIS DISEASE; INSULIN DEPENDENT DIABETES MELLITUS; MALE; MOLECULAR GENETICS; OPTIC NERVE ATROPHY; PONS; PRACTICE GUIDELINE; WFS1 GENE; WOLFRAM SYNDROME; CASE REPORT; CHILD; FATALITY; GENETICS; MUTATION; PHENOTYPE; PHYSIOLOGY;

ADOLESCENT; CHILD; FATAL OUTCOME; FEMALE; HUMANS; MALE; MUTATION; PHENOTYPE; WOLFRAM SYNDROME; YOUNG ADULT;

EID: 84855420335     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0029150     Document Type: Article

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