Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report

Laura Torres-Canchala,1 Daniela Castaño,2 Nathalia Silva,2 Ana María Gómez,2 Alejandro Victoria,3 Harry Pachajoa4,5 1Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia; 2Newborn Intensive Care Unit, Fundación...

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Bibliographic Details
Main Authors: Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H
Format: Article
Language:English
Published: Dove Medical Press 2020-08-01
Series:The Application of Clinical Genetics
Subjects:
pfeiffer syndrome
acrocephalosyndactylia
craniosynostosis
fibroblast growth factor receptor 2
Online Access:https://www.dovepress.com/prenatal-diagnosis-of-pfeiffer-syndrome-patient-with-fgfr2-c940-1ggtc--peer-reviewed-article-TACG

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https://www.dovepress.com/prenatal-diagnosis-of-pfeiffer-syndrome-patient-with-fgfr2-c940-1ggtc--peer-reviewed-article-TACG

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