Article
Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.
American journal of medical genetics. Part A - 1 Mar 2013
Bertola Débora R, Rodrigues Melina G, Quaio Caio R D C, Kim Chong A, Passos-Bueno Maria Rita
Abstract excerpt
Frontonasal dysplasias (FND) comprise a spectrum of disorders caused by abnormal median facial development. Its etiology is still poorly understood but recently frontonasal dysplasia phenotypes were linked to loss-of-function mutations in the ALX homeobox gene family, which comprises the ALX1, ALX3, and ALX4 genes. All ALX-related frontonasal phenotypes till date had been compatible with an autosomal recessive...
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