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Megalencephaly Secondary to a Novel Germline Missense Variant P.asp322tyr in AKT3 Associated with Growth Hormone Deficiency and Central Hypothyroidism: A Case Report.

E. Renard,C. Bonnet, M. Di Patrizio, E. Schmitt, A. C. Madkaud, C. Chabot,M. Kuchenbuch, L. Lambert

American Journal of Medical Genetics Part A(2024)

Cited 0|Views5
Key words
AKT3,growth hormone,megalencephaly,pituitary,thyroid
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