Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance
| Autor: | Reis Df, S Middleton, J G Barbosa Neto, L F Telles, J C Llerena Júnior, Ramos Pontes, J C de Almeida |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Male
genetic structures Genes Recessive Consanguinity Biology Short stature Cornea Genetics Peters-plus syndrome medicine Humans Growth Disorders Genetics (clinical) Autosomal recessive inheritance Anomaly (natural sciences) Brachydactyly Infant Syndrome medicine.disease eye diseases Phenotype Child Preschool Female sense organs medicine.symptom Research Article |
| Zdroj: | Journal of Medical Genetics. 28:277-279 |
| ISSN: | 1468-6244 |
| Popis: | Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance. |
| Databáze: | OpenAIRE |
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