Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion

American Journal of Medical Genetics, Part A

Volumn 152, Issue 5, 2010, Pages 1244-1249

  Saugier Veber, Pascale ^a,b   Doummar, Diane ^c   Barthez, Marie Anne ^d   Czernecki, Virginie ^e   Drouot, Nathalie ^a,b   Apartis, Emmanuelle ^f   Bürglen, Lydie ^c   Frebourg, Thierry ^a,b   Roze, Emmanuel ^e,g  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE ROUEN   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d UNIVERSITY HOSPITAL OF TOURS   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f HÔPITAL SAINT ANTOINE   (France)

^g INSERM   (France)

Author keywords

7q21 microdeletion; Epsilon sarcoglycan; Growth retardation; Mental retardation; Myoclonus dystonia; SGCE gene

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; EPSILON SARCOGLYCAN GENE; FACE DYSMORPHIA; GENE; GENE MUTATION; GROWTH RETARDATION; HEPACAM 2 GENE; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MYOCLONUS DYSTONIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SHORT STATURE;

ADOLESCENT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; DYSTONIA; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MYOCLONUS; POLYMERASE CHAIN REACTION; PREGNANCY; SYNDROME;

EID: 77951725815     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33369     Document Type: Article

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