Ana T. Anton-Serrano

Murcia, MU 30120, Spain

Last Updated: 09/26/2026

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Found 9 publications

The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.

The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.

Journal: Genes

Published: March 09, 2023

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.

Journal: Orphanet journal of rare diseases

Published: March 07, 2023

Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases.

Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases.

Journal: Anales de pediatria

Published: December 10, 2020

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.

Journal: Orphanet journal of rare diseases

Published: October 20, 2020

New case with the recurrent c.625G>A pathogenic variant in the PACS2 gene: expanding the phenotype.

New case with the recurrent c.625G>A pathogenic variant in the PACS2 gene: expanding the phenotype.

Journal: Neurologia

Published: September 10, 2020

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.

Journal: Orphanet journal of rare diseases

Published: June 02, 2019

First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene

First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene

Journal: Anales de pediatria

Published: February 01, 2019

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.

Journal: Orphanet journal of rare diseases

Published: October 27, 2018

Arthralgias and Articular Hyperlaxitude in Women with Ophthalmopathy and Early Deafness.

Arthralgias and Articular Hyperlaxitude in Women with Ophthalmopathy and Early Deafness.

Journal: Reumatologia clinica

Published: April 28, 2018

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Last Updated: 09/26/2026