Natalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra, Julián Nevado, Mario Cazalla, Elsa Lucas-Castro, Karen E Heath, María Palomares, Emma Soengas, M Dolores Lledín, Emily Larrea, Antonio Olveira, Beatriz Morte, Ángel Carracedo, Pablo Lapunzina
{"title":"AMOTL1相关多发性先天畸形（颅面心肝综合征，CFCHS）：包括颅面、心脏和肝脏异常的新临床谱系。","authors":"Natalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra, Julián Nevado, Mario Cazalla, Elsa Lucas-Castro, Karen E Heath, María Palomares, Emma Soengas, M Dolores Lledín, Emily Larrea, Antonio Olveira, Beatriz Morte, Ángel Carracedo, Pablo Lapunzina","doi":"10.1111/cge.14644","DOIUrl":null,"url":null,"abstract":"<p><p>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).</p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.9000,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.\",\"authors\":\"Natalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra, Julián Nevado, Mario Cazalla, Elsa Lucas-Castro, Karen E Heath, María Palomares, Emma Soengas, M Dolores Lledín, Emily Larrea, Antonio Olveira, Beatriz Morte, Ángel Carracedo, Pablo Lapunzina\",\"doi\":\"10.1111/cge.14644\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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).</p>\",\"PeriodicalId\":10354,\"journal\":{\"name\":\"Clinical Genetics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2024-11-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/cge.14644\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/cge.14644","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.
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).
期刊介绍：
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.
Topics of particular interest are:
• Linking genetic variations to disease
• Genome rearrangements and disease
• Epigenetics and disease
• The translation of genotype to phenotype
• Genetics of complex disease
• Management/intervention of genetic diseases
• Novel therapies for genetic diseases
• Developmental biology, as it relates to clinical genetics
• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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