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

INTRODUCTION: Mutations in ABCC9 are associated with Cantú syndrome (CS), a very rare genetic disorder characterized by congenital hypertrichosis, acromegaloid facial appearance (AFA), cardiomegaly, and skeletal anomalies. CASE REPORT: We report an 8-year-old female patient with congenital generaliz...

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Detalles Bibliográficos
Autores principales: Pachajoa, Harry, López-Quintero, William, Vanegas, Sara, Montoya, Claudia L, Ramírez-Montaño, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870921/
https://www.ncbi.nlm.nih.gov/pubmed/29615845
http://dx.doi.org/10.2147/TACG.S155022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870921/
https://www.ncbi.nlm.nih.gov/pubmed/29615845
http://dx.doi.org/10.2147/TACG.S155022

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