Ignacio Carrera-Arroyo

Caceres, EX, Spain

Last Updated: 09/26/2026

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Found 14 publications

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Journal: Nature genetics

Published: September 13, 2024

X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion

X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion

Journal: Revista de neurologia

Published: May 30, 2024

Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness

Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness

Journal: Revista de neurologia

Published: January 27, 2023

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.

Journal: Clinical genetics

Published: December 08, 2020

Perineal mass at birth.

Perineal mass at birth.

Journal: Anales de pediatria

Published: December 03, 2020

Severe Neurological Phenotype in a Girl with Xp22.31 Triplication.

Severe Neurological Phenotype in a Girl with Xp22.31 Triplication.

Journal: Molecular syndromology

Published: March 06, 2017

RIT1: a novel gene associated with Noonan syndrome

RIT1: a novel gene associated with Noonan syndrome

Journal: Revista de neurologia

Published: October 05, 2016

Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data

Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data

Journal: Anales de pediatria (Barcelona, Spain : 2003)

Published: March 11, 2016

Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay

Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay

Journal: Revista de neurologia

Published: May 09, 2015

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Journal: Orphanet journal of rare diseases

Published: January 06, 2015

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.

Journal: American journal of medical genetics. Part A

Published: May 09, 2014

Accessory scrotum

Accessory scrotum

Journal: Anales de pediatria (Barcelona, Spain : 2003)

Published: September 11, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026