AMOTL1

Publications

Strong A et al. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. Am J Med Genet A. 2023;191(5):1227-1239. PMID: 36751037.

Kirino S et al. Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant. Eur J Med Genet. 2022;65(11):104623. PMID: 36116699.

Rips J et al. De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features. Am J Med Genet A. 2021;185(1):190-195. PMID: 33026150.

Liegel RP et al. Using human sequencing to guide craniofacial research. Genesis. 2019;57(1):e23259. PMID: 30375152.