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Megalencephaly secondary to a novel germline missense varia..:
Renard, E.
;
Bonnet, C.
;
Di Patrizio, M.
...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024
Link:
https://doi.org/10.1002/ajmg.a.63585
RT Journal T1 <Title>Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63585&Exemplar=1&LAN=DE A1 Renard, E. A1 Bonnet, C. A1 Di Patrizio, M. A1 Schmitt, E. A1 Madkaud, A. C. A1 Chabot, C. A1 Kuchenbuch, M. A1 Lambert, L. PB Wiley YR 2024 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 194 IS 7 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63585 DO https://doi.org/10.1002/ajmg.a.63585 SF ELIB - SuUB Bremen
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