ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant-Reference-Cited by-同舟云学术

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Published:2020-06-12 Issue:8 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Morena‐Barrio María Eugenia¹^ORCID,Sabater María²,Morena‐Barrio Belén¹^ORCID,Ruhaak Renee L.³,Miñano Antonia¹,Padilla José¹^ORCID,Toderici Mara¹,Roldán Vanessa¹^ORCID,Gimeno Juan R.²^ORCID,Vicente Vicente¹^ORCID,Corral Javier¹^ORCID

Affiliation:

1. Servicio de Hematología y Oncología Médica Hospital Universitario Morales Meseguer Centro Regional de Hemodonación CIBERERUniversidad de MurciaIMIB‐Arrixaca Murcia Spain

2. Servicio de Cardiología Laboratorio de Cardiogenética CIBERCV, Hospital Clínico Universitario Virgen de la Arrixaca‐IMIB Murcia Spain

3. Department of Clinical Chemistry and Laboratory Medicine Leiden University Medical Center Leiden The Netherlands

Funder

Instituto de Salud Carlos III

Universidad de Murcia

Fundación Séneca

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1304