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A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2008 Feb 15; Vol. 146A (4), pp. 450-2. - Publication Year :
- 2008
-
Abstract
- We present a case of a male with severe mental retardation, seizure disorder, and absence/hypoplasia of the thumb and great toe nails. This combination of clinical findings has been reported only once previously. We suggest it represents a distinct syndrome. Our case has the additional finding of broad thumbs.
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 146A
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 18203178
- Full Text :
- https://doi.org/10.1002/ajmg.a.32129