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

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

Harry Pachajoa,1,2 William López-Quintero,3 Sara Vanegas,1 Claudia L Montoya,3 Diana Ramírez-Montaño1 1Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Valle del Cauca, Colombia; 2P...

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Bibliographic Details
Main Authors: Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D
Format: Article
Language:English
Published: Dove Medical Press 2018-03-01
Series:The Application of Clinical Genetics
Subjects:
Hypertrichosis
Acromegaloid features
AFA syndrome
Cantú Syndrome
Online Access:https://www.dovepress.com/novel-mutation-in-abbc9-gene-associated-with-congenital-hypertrichosis-peer-reviewed-article-TACG

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https://www.dovepress.com/novel-mutation-in-abbc9-gene-associated-with-congenital-hypertrichosis-peer-reviewed-article-TACG

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