Article
Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review.
American journal of medical genetics. Part A - 1 Jul 2020
Perrone Eduardo, D'Almeida Vânia, de Macena Sobreira Nara Lygia, de Mello Claudia Berlim, de Oliveira Allan Chiaratti, Burlin Stênio, Soares Maria de Fátima de Faria, Cernach Mirlene Cecília Soares Pinho, Alvarez Perez Ana Beatriz
Abstract excerpt
Gomez-López-Hernández syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES-associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our...
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