Title: Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity
Authors: Keymolen, K ×
Lombaerts, Rita
Verloes, A
Fryns, Jean-Pierre #
Issue Date: Jul-2000
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:93 issue:1 pages:19-21
Abstract: In 1987 Buttiens and Fryns [1987: Am J Med Genet 27:651-660] reported on two sibs, brother and sister, with severe distal limb defects, micrognathia, and mild to moderate mental retardation. The male also showed severe myopia and oligomeganephronia. To the best of our knowledge, no other similar patients have been described since. We report on a boy with a similar phenotype. .
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics
Department of Human Genetics - miscellaneous
Pediatric Nephrology Section (-)
× corresponding author
# (joint) last author

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