Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2947-2951

  Aslan, Deniz ^a   Akata, Rustu Fikret ^a   Schröder, Julia ^b   Happle, Rudolf ^c   Moog, Ute ^d   Bartsch, Oliver ^b  

^a GAZI UNIVERSITY   (Turkey)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Aplasia cutis congenita; Digital anomaly; Epibulbar dermoid; Epidermal nevus; Hypopigmented macule; Oculoectodermal syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CISTERNA MAGNA; EPIBULBAR DERMOID; EPIDERMAL NEVUS; EPIDERMOID TUMOR; EYE DISEASE; FINGER MALFORMATION; GENETIC DISORDER; HUMAN; HYPERACTIVITY; HYPERKERATOSIS; HYPERPIGMENTATION; HYPOPIGMENTATION; INTELLECTUAL IMPAIRMENT; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEVUS; OCULOECTODERMAL SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN APLASIA; SKIN BIOPSY; SKIN DISEASE; SOFT TISSUE TUMOR; TELANGIECTASIA; BRAIN; DERMOID CYST; ECTODERMAL DYSPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PHENOTYPE; SKIN;

BRAIN; CHILD, PRESCHOOL; DERMOID CYST; ECTODERMAL DYSPLASIA; HUMANS; HYPOPIGMENTATION; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; SKIN;

EID: 84910673567     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36727     Document Type: Article

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