Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes?

American Journal of Medical Genetics, Part A

Volumn 140 A, Issue 7, 2006, Pages 709-726

  Hunter, Alasdair G W ^a,b,c,d  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b IWK HEALTH CENTRE   (Canada)

^c GREENWOOD GENETIC CENTER   (United States)

^d NONE   (Canada)

Author keywords

Clinical spectrum; Diagnostic criteria; Encephalocraniocutaneous lipomatosis; Oculocerebrocutaneous syndrome

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL ARTICLE; CLINICAL FEATURE; COLOBOMA; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC IMAGING; ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS SYNDROME; FEMALE; HAIR DISEASE; HISTOPATHOLOGY; HUMAN; LIPOMATOSIS; MALE; MICROPHTHALMIA; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOCEREBROCUTANEOUS SYNDROME; ORBIT CYST; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; BRAIN; CONGENITAL MALFORMATION; CONGENITAL SKIN DISEASE; DIFFERENTIAL DIAGNOSIS; EYE MALFORMATION; INFANT; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PHAKOMATOSIS; REVIEW; SYNDROME;

ABNORMALITIES, MULTIPLE; BRAIN; DIAGNOSIS, DIFFERENTIAL; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; LIPOMATOSIS; NEUROCUTANEOUS SYNDROMES; SKIN ABNORMALITIES; SYNDROME;

EID: 33646948629     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31149     Document Type: Article

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