Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.

Nature genetics - 1 Aug 2000

Ferda Percin E, Ploder L A, Yu J J, Arici K, Horsford D J, Rutherford A, Bapat B, Cox D W, Duncan A M, Kalnins V I, Kocak-Altintas A, Sowden J C, Traboulsi E, Sarfarazi M, McInnes R R

Abstract excerpt

Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized by a small eye and other ocular abnormalities. Three microphthalmia/anophthalmia loci have been identified, and two others have been inferred by the co-segregation of translocations with the phenotype. We previously found that mice with ocular retardation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 14
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatal Outcome

Share to Genes, Homeobox

Share to Homeodomain Proteins

Share to Microphthalmos

Share to Retina

Source

Identifiers

PMID: 10932181
DOI: 10.1038/78071

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.PMID 10932181Read ↗

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.Semantic proximity Read ↗

Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation.Semantic proximity Read ↗

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.Semantic proximity Read ↗

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.Semantic proximity Read ↗

Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick.Semantic proximity Read ↗

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.Semantic proximity Read ↗

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanismsSemantic proximity Read ↗

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.Semantic proximity Read ↗

Absence of<i>Chx10</i>Causes Neural Progenitors to Persist in the Adult RetinaSemantic proximity Read ↗

VSX2 mutations in autosomal recessive microphthalmia.Semantic proximity Read ↗

Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA binding.Semantic proximity Read ↗

Mapping of genetic modifiers affecting the eye phenotype of ocular retardation (Chx10or-J) mice.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.