Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia [2]

American Journal of Medical Genetics

Volumn 113, Issue 1, 2002, Pages 111-113

  Zannolli, R ^a   Inchingolo, G ^a   Serracca, L ^a   Miracco, C ^a   De Santi, M M ^a   Malandrini, A ^a   Biagioli, M ^a   Perotti, R ^a   Baldi, C ^b   Nuti, D ^a   Polito, E ^a   Gonnelli, S ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALOPECIA; ATAXIA; CASE REPORT; CELL ULTRASTRUCTURE; CEREBELLAR ATAXIA; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DUAL ENERGY X RAY ABSORPTIOMETRY; ECTODERMAL DYSPLASIA; EYE DISEASE; HISTOLOGY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; JOINT LAXITY; KARYOTYPE 46,XY; LETTER; MALE; NYSTAGMUS; OSTEOPENIA; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SKIN BIOPSY; STRABISMUS; SYNDROME;

ABNORMALITIES, MULTIPLE; ADIPOSE TISSUE; ALOPECIA; BIOPSY; BLEPHAROPTOSIS; BONE DISEASES, METABOLIC; CEREBELLAR ATAXIA; CHILD; ECTODERMAL DYSPLASIA; EYEBROWS; HUMANS; JOINT DISEASES; MALE; NYSTAGMUS, PATHOLOGIC; PHENOTYPE; SKIN; STRABISMUS; SYNDROME;

ATAXIA;

EID: 18644369585     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10713     Document Type: Letter

References (16)

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