Associated Papers
AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.
Gallego-Zazo N et al.
Clinical Genetics, 2025
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A et al.
American Journal of Medical Genetics. Part A, 2023
De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.
Rips J et al.
American Journal of Medical Genetics. Part A, 2021
Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.
Liu J et al.
Nature Communications, 2014
24807215 (PubMed )
Supplement: ncomms4830-s5.xls › S4-Tumor_mutations
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