First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

BMC Medical Genetics

Volumn 18, Issue 1, 2017, Pages

  Rejeb, Imen ^a   Jilani, Houweyda ^a   Elaribi, Yasmina ^a   Hizem, Syrine ^a   Hila, Lamia ^b   Zillahrdt, Julia Lauer ^c,d,e   Chelly, Jamel ^c,d,e   Benjemaa, Lamia ^a  

^a MONGI SLIM HOSPITAL   (Tunisia)

^b UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^c INSTITUT COCHIN   (France)

^d INSERM   (France)

^e UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

Cohen syndrome; Compound heterozygous mutation; VPS13B gene

Indexed keywords

APGAR SCORE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL ARTICLE; COHEN SYNDROME; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GENE; GENE LIBRARY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIATION; GROWTH RETARDATION; HUMAN; INTELLECTUAL IMPAIRMENT; JOINT LAXITY; MALE; MICROCEPHALY; MICROGNATHIA; MUSCLE HYPOTONIA; MYOPIA; NEUROLOGIC EXAMINATION; OBESITY; PRESCHOOL CHILD; RETINOPATHY; SCHOOL CHILD; STRABISMUS; TUNISIAN; VISUAL SYSTEM EXAMINATION; VPS13B GENE; ABNORMALITIES; EXOME; FINGER; GENETICS; HUMAN GENOME; MUTATION; PATHOLOGY; PEDIGREE; PROGNOSIS;

VESICULAR TRANSPORT PROTEIN; VPS13B PROTEIN, HUMAN;

CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; FINGERS; GENOME, HUMAN; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MUTATION; MYOPIA; OBESITY; PEDIGREE; PROGNOSIS; VESICULAR TRANSPORT PROTEINS;

EID: 85034061459     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-017-0493-5     Document Type: Article

References (11)

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