Title: Björnstad syndrome in a patient with mental retardation
Authors: Van Buggenhout, Griet ×
Trommelen, J
Hamel, B
Fryns, Jean-Pierre #
Issue Date: 1998
Series Title: Genetic Counseling vol:9 issue:3 pages:201-4
Abstract: Björnstad syndrome in a patient with mental retardation: Pili torti or twisted hair can appear as an isolated defect, in association with other ectodermal defects, in association with other clinical features or can be acquired. Björnstad syndrome is a rare condition with apparent autosomal recessive inheritance, characterized by hearing loss and twisted hairs (pili torti). All patients with Björnstad syndrome reported thusfar have normal intelligence. We report on a patient with severe mental retardation and review the literature.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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