Article
AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.
Clinical genetics - 1 Feb 2025
Gallego-Zazo Natalia, Tenorio-Castano Jair, Parra Alejandro, Nevado Julián, Cazalla Mario, Lucas-Castro Elsa, Heath Karen E, Palomares María, Soengas Emma, Lledín M Dolores, Larrea Emily, Olveira Antonio, Morte Beatriz, Carracedo Ángel, Lapunzina Pablo
Abstract excerpt
We identified an AMOTL1 variant in a patient that adds evidence supporting the clinical and molecular overlap between AMOTL1-related disorders and other syndromes affecting craniofacial, cardiac, and hepatic development. As more cases are identified, we propose naming this entity as AMOTL1-associated multiple congenital anomalies or craniofaciocardiohepatic syndrome (CFCHS).
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