Delineation of a newly recognized neurocutaneous malformation syndrome with "Cutis tricolor"

American Journal of Medical Genetics

Volumn 120 A, Issue 1, 2003, Pages 110-116

  Ruggieri, Martino ^a   Iannetti, Paola ^b   Pavone, Lorenzo ^c  

^a INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c NONE

Author keywords

Neurological abnormalities; Pigmentary mosaicism; Skeletal dysplasia; Twin spotting

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; PHENOBARBITAL; PRIMIDONE; VALPROIC ACID;

ARTICLE; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CONGENITAL SKIN DISEASE; CUTIS TRICOLOR; ELECTROENCEPHALOGRAM; FACE MALFORMATION; FEMALE; HETEROZYGOSITY LOSS; HUMAN; MENTAL RETARDATION MALFORMATION SYNDROME; MOSAICISM; MULTIPLE MALFORMATION SYNDROME; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHAKOMATOSIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SKIN DISEASE; SKIN PIGMENTATION; SOMATIC MUTATION; SYNDROME DELINEATION;

GENETTA;

EID: 0041821833     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20011     Document Type: Article

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