Celia Seco-Zazo

Toulouse, France

Last Updated: 09/26/2026

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Found 12 publications

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Journal: Journal of human genetics

Published: July 24, 2019

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

Journal: American journal of human genetics

Published: March 01, 2019

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Journal: Human genetics

Published: December 19, 2018

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Journal: Human genetics

Published: March 28, 2018

Identification of PITX3 mutations in individuals with various ocular developmental defects.

Identification of PITX3 mutations in individuals with various ocular developmental defects.

Journal: Ophthalmic genetics

Published: February 07, 2018

4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

Journal: European journal of medical genetics

Published: March 01, 2017

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Journal: Disease models & mechanisms

Published: July 08, 2016

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Journal: European journal of human genetics : EJHG

Published: April 12, 2016

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Journal: American journal of human genetics

Published: May 29, 2015

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Journal: American journal of human genetics

Published: May 05, 2012

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.

Journal: American journal of human genetics

Published: April 19, 2012

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

Journal: American journal of human genetics

Published: February 28, 2012

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Last Updated: 09/26/2026