New autosomal recessive cerebellar ataxia disorder in a large inbred lebanese family

American Journal of Medical Genetics

Volumn 101, Issue 2, 2001, Pages 135-141

  Megarbane A ^a   Delague, V ^a   Ruchoux, M M ^b   Rizkallah, E ^c   Maurage, C A ^b   Viollet, L ^d   Rouaix Emery, N ^b   Urtizberea, A ^e  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c SAINT GEORGE HOSPITAL UNIVERSITY MEDICAL CENTER   (Lebanon)

^d Service de Pdiatrie   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Cerebellar hypoplasia; Druze; Mental retardation; Microcephaly; Middle East; Optic atrophy; Short stature; Ultrastructural vascular abnormalities

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; FEMALE; HEREDITARY OPTIC ATROPHY; HUMAN; LEBANON; MALE; MICROCEPHALY; PEDIGREE; PRIORITY JOURNAL; RESPIRATORY CHAIN; SHORT STATURE; SKIN BLOOD VESSEL DISORDER; SPEECH DISORDER;

ADOLESCENT; CEREBELLAR ATAXIA; CHILD; CONSANGUINITY; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; GROWTH DISORDERS; HUMANS; LEBANON; MALE; MENTAL RETARDATION; MICROSCOPY, ELECTRON; PEDIGREE; SKIN;

ATAXIA;

EID: 0035877024     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010615)101:2<135::AID-AJMG1134>3.0.CO;2-J     Document Type: Article

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