Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

American Journal of Medical Genetics

Volumn 98, Issue 3, 2001, Pages 244-249

  Mgarbane, Andre ^a,f   Waked, Naji ^b   Chouery, Eliane ^c   Moglabey, Yolla Bou ^d   Saliba, Nagib ^e   Mornet, Etienne ^e   Serre, Jean Louis ^e   Slim, Rima ^e  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b Service d'Ophtalmologie   (Lebanon)

^c AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^d Service d'ORL   (Lebanon)

^e Centre d'Etude de Biologie Prenatale   (France)

^f Saint Joseph University   (France)

Author keywords

Cataracts; Cutis verticis gyrata; Deafness; Mental retardation; Microcephaly; Retinitis pigmentosa

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CATARACT; CONGENITAL SKIN DISEASE; DIVERGENT STRABISMUS; FACE MALFORMATION; HUMAN; HYPERTELORISM; KYPHOSCOLIOSIS; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCALP; SIBLING; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADULT; CATARACT; DNA; FAMILY HEALTH; FEMALE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE; RETINITIS PIGMENTOSA; REVIEW LITERATURE; SCALP DERMATOSES; SYNDROME;

EID: 0035931551     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010122)98:3<244::AID-AJMG1084>3.0.CO;2-W     Document Type: Article

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