Cornelia de Lange syndrome in several members of the same family.
Open Access
- 1 August 1985
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 22 (4) , 296-300
- https://doi.org/10.1136/jmg.22.4.296
Abstract
A family is reported in which several members have the Cornelia de Lange syndrome and other members show facial dysmorphism and other features reminiscent of this syndrome. The segregation pattern is consistent with the view that the dysmorphic features (variable) are the manifestation of a single gene in heterozygous form. Chromosome abnormality was not found.This publication has 6 references indexed in Scilit:
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- AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROMEActa Paediatrica, 1968
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- BRACHMANN/DE LANGE SYNDROMEThe Lancet, 1965
- BRACHMANN/DE LANGE SYNDROMEThe Lancet, 1964
- Nanismo degenerativo tipo di Amsterdam (Typus Amstelodamensis – Malattia di Cornelia De Lange). Presentazione di un caso e considerazioni di ordine geneticoActa geneticae medicae et gemellologiae, 1954