Genetic disorders associated with macrocephaly
@article{Williams2008GeneticDA, title={Genetic disorders associated with macrocephaly}, author={C. Williams and A. Dagli and A. Battaglia}, journal={American Journal of Medical Genetics Part A}, year={2008}, volume={146A} }
Macrocephaly is associated with many genetic disorders and is a frequent cause of referral to the clinical geneticist. In this review we classify the commonly encountered macrocephaly disorders into useful categories and summarize recent genetic advances. Conditions where macrocephaly is a predominant aspect of the clinical presentation are discussed and a diagnostic approach to the common macrocephaly disorders is provided. Some emphasis is placed on familial macrocephaly (sometimes referred… CONTINUE READING
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