Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 3122-3124

  Fickie, Matthew R ^a   Stoler, Joan M ^b  

^a BAYSTATE MEDICAL CENTER   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE RADIOGRAPHY; CASE REPORT; CHILD; CHROMOSOME DELETION X; CHROMOSOME DELETION XQ12; CHROMOSOME MOSAICISM; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL BONE DISEASE; CONGENITAL DISORDER; DIFFERENTIAL DIAGNOSIS; EPIBULBAR DERMOID; EYE DISEASE; EYE EXAMINATION; FAMILY HISTORY; FIBROMA; GENETIC SCREENING; HUMAN; HYPERPIGMENTATION; JAFFE CAMPANACCI SYNDROME; LEG LENGTH INEQUALITY; LETTER; MALE; MARKER GENE; OCULO ECTODERMAL SYNDROME; OPHN1 GENE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKIN APLASIA;

ABNORMALITIES, MULTIPLE; BONE NEOPLASMS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; DERMOID CYST; ECTODERMAL DYSPLASIA; EYE NEOPLASMS; FIBROMA; HUMANS; HYPERPIGMENTATION; MALE; MOSAICISM; PHENOTYPE; SYNDROME;

EID: 81955161923     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34294     Document Type: Letter

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