Abstract
We report on a male with severe mental retardation, epilepsy, short stature, and skeletal dysplasia. The syndrome was first delineated by Gurrieri et al. in 1992 [Am J Med Genet 44:315-320]. This case seems to confirm the existence of the Gurrieri syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 230-232 |
| Number of pages | 3 |
| Journal | American Journal of Medical Genetics |
| Volume | 62 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Mar 29 1996 |
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Keywords
- autosomal recessive inheritance
- epilepsy
- Gurrieri syndrome
- mental retardation
- multiple congenital anomalies
- skeletal dysplasia
ASJC Scopus subject areas
- Genetics(clinical)
- Neuroscience(all)
- Neuropsychology and Physiological Psychology
Cite this
Mental retardation, epilepsy, short stature, and skeletal dysplasia : Confirmation of the Gurrieri syndrome. / Battaglia, Agatino; Orsitto, Eugenio; Gibilisco, Gaetano.
In: American Journal of Medical Genetics, Vol. 62, No. 3, 29.03.1996, p. 230-232.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mental retardation, epilepsy, short stature, and skeletal dysplasia
T2 - Confirmation of the Gurrieri syndrome
AU - Battaglia, Agatino
AU - Orsitto, Eugenio
AU - Gibilisco, Gaetano
PY - 1996/3/29
Y1 - 1996/3/29
N2 - We report on a male with severe mental retardation, epilepsy, short stature, and skeletal dysplasia. The syndrome was first delineated by Gurrieri et al. in 1992 [Am J Med Genet 44:315-320]. This case seems to confirm the existence of the Gurrieri syndrome.
AB - We report on a male with severe mental retardation, epilepsy, short stature, and skeletal dysplasia. The syndrome was first delineated by Gurrieri et al. in 1992 [Am J Med Genet 44:315-320]. This case seems to confirm the existence of the Gurrieri syndrome.
KW - autosomal recessive inheritance
KW - epilepsy
KW - Gurrieri syndrome
KW - mental retardation
KW - multiple congenital anomalies
KW - skeletal dysplasia
UR - http://www.scopus.com/inward/record.url?scp=0029998680&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029998680&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19960329)62:3<230::AID-AJMG6>3.0.CO;2-X
DO - 10.1002/(SICI)1096-8628(19960329)62:3<230::AID-AJMG6>3.0.CO;2-X
M3 - Article
C2 - 8882779
AN - SCOPUS:0029998680
VL - 62
SP - 230
EP - 232
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -