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LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Emergencies related to cancer chemotherapy and hematopoietic stem cell transplantation.
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
The role of phenotypic plasticity in driving genetic evolution.
Brain anomalies in encephalocraniocutaneous lipomatosis.
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Brain anomalies in encephalocraniocutaneous lipomatosis.
Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72.
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PubMed
subject areas
Abnormalities, Multiple
Adolescent
Brain
Brain Diseases
Child
Child, Preschool
Eye Diseases
Female
Humans
Infant
Lipomatosis
Magnetic Resonance Imaging
Male
Neurocutaneous Syndromes
Syndrome
authors with profiles
William B. Dobyns