| Autor: |
Barisić, I, Ligutić, I, Zergollern, L |
| Zdroj: |
Journal of Medical Genetics; Oct1996, Vol. 33 Issue 10, p882-883, 2p |
| 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. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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