Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from mild to severe forms, involving eye, ear, oral and craniofacial structure. We report three members of one family, showing great...

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Veröffentlicht in:Indian journal of pediatrics 2005-08, Vol.72 (8), p.701-703
Hauptverfasser: KULKARNI, M. L, DESHMUKH, Shilpa, KUMAR, Ananda, KULKARNI, Preethi M
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Biological and medical sciences
Branchio-Oto-Renal Syndrome - diagnosis
Branchio-Oto-Renal Syndrome - genetics
Child
Female
General aspects
Genes, Dominant
Humans
Male
Medical sciences
Phenotype
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Beschreibung
Zusammenfassung:Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from mild to severe forms, involving eye, ear, oral and craniofacial structure. We report three members of one family, showing great variability in its phenotypic expression and review the recent literature.
ISSN:0019-5456
0973-7693
DOI:10.1007/BF02724081