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The Application of Clinical Genetics Volume 11, 2018 - Issue
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Case Report

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
Pages 15-21 | Published online: 23 Mar 2018

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