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Partial biotinidase deficiency associated with Coffin-Siris syndrome.
- Source :
-
European journal of pediatrics [Eur J Pediatr] 1990 Jun; Vol. 149 (9), pp. 628-9. - Publication Year :
- 1990
-
Abstract
- Coffin-Siris syndrome is an infrequent condition characterised by mental retardation, nail hypoplasia or absence with fifth digit involvement and feeding problems. In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome. We report a 26-month-old girl with the disease and partial biotinidase deficiency.
Details
- Language :
- English
- ISSN :
- 0340-6199
- Volume :
- 149
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- European journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 2373113
- Full Text :
- https://doi.org/10.1007/BF02034749