Micropthalmia Associated with Colobomatous Cyst Latest Advances

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

Journal: Genes

Published: December 30, 2024

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: November 28, 2024

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.

Journal: Research square

Published: November 28, 2024

Variants in NR6A1 cause a novel oculo vertebral renal syndrome.

Journal: Nature communications

Published: November 09, 2024

Bilateral colobomatous microphthalmia with unilateral orbital cyst

Journal: Journal francais d'ophtalmologie

Published: February 06, 2024

Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child.

Journal: Ophthalmic plastic and reconstructive surgery

Published: April 10, 2023

De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.

Journal: Ophthalmic genetics

Published: March 23, 2022

Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.

Journal: Clinical case reports

Published: January 11, 2022

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Journal: Clinical genetics

Published: June 24, 2020

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.

Journal: Nature communications

Published: February 26, 2018

Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum.

Journal: European journal of medical genetics

Published: November 08, 2017

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

Journal: American journal of medical genetics. Part A

Published: January 25, 2016

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The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.

Variants in NR6A1 cause a novel oculo vertebral renal syndrome.

Variants in NR6A1 cause a novel oculo vertebral renal syndrome.

Bilateral colobomatous microphthalmia with unilateral orbital cyst

Bilateral colobomatous microphthalmia with unilateral orbital cyst

Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child.

Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child.

De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.

De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.

Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.

Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.

Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum.

Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum.

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.