Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype

Harry Pachajoa1 Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Valle del Cauca, Colombia;2 Pediatric Medical Genetics, Fundación Valle del Lili, Cali, Valle del Cauca, ColombiaCorrespondence[email protected]

William López-Quintero3 Dermatology Department, Fundación Valle del Lili, Cali, Valle del Cauca, Colombia

Sara Vanegas1 Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Valle del Cauca, Colombia

Claudia L Montoya3 Dermatology Department, Fundación Valle del Lili, Cali, Valle del Cauca, Colombia

Diana Ramírez-Montaño1 Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Valle del Cauca, Colombia

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Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype

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Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype

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