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1.
Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
Am J Med Genet A
; 179(12): 2517-2531, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31639285
2.
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
Am J Med Genet A
; 173(5): 1319-1327, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28296084
3.
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Genet Med
; 19(12)2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28933790
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