| Autor: |
Barisić I; Department of Medical Genetics, Children's Hospital Zagreb, Croatia., Ligutić I, Zergollern L |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of medical genetics [J Med Genet] 1996 Oct; Vol. 33 (10), pp. 882-3. |
| DOI: |
10.1136/jmg.33.10.882 |
| Abstrakt: |
Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
