Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation inADNPgene

Authors :: Dorota Piekutowska-Abramczuk
Dorota Jurkiewicz
Krystyna H. Chrzanowska
Elżbieta Ciara
Małgorzata Krajewska-Walasek
Marzena Kucharczyk
Aleksandra Jezela-Stanek
Source :: American Journal of Medical Genetics Part A. 170:1647-1650
Publication Year :: 2016
Publisher :: Wiley, 2016.

Subjects :: 0301 basic medicine
Genetics
Truncating mutation
030105 genetics & heredity
Biology
Phenotype
03 medical and health sciences
030104 developmental biology
Mutation (genetic algorithm)
Cancer research
HELSMOORTEL-VAN DER AA SYNDROME
Clinical phenotype
Gene
Genetics (clinical)

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