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

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Aug 2006

Graw Jochen, Klopp Norman, Illig Thomas, Preising Markus N, Lorenz Birgit

Abstract excerpt

BACKGROUND: An isolated form of congenital cataract associated with macular hypoplasia and a generally hypopigmented fundus in infancy was observed in a German family. To test the hypothesis that a de-novo mutation had occurred in one of the parental germ lines, a functional candidate gene approach was applied. METHODS: The family was carefully examined by a senior paediatric ophthalmologist according to routine...

Read the complete abstract on PubMed

Topics

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

Share to Cataract
Share to Crystallins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Eye Abnormalities

Share to Macula Lutea

Share to Membrane Transport Proteins

Share to Nystagmus, Pathologic

Share to Pigment Epithelium of Eye

Source

Identifiers

PMID: 16453125
DOI: 10.1007/s00417-005-0234-x

Genes

CRYAA
ERG
CRYBB2
GJA8
PAX6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.PMID 16453125Read ↗

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.Semantic proximity Read ↗

Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).Semantic proximity Read ↗

Mutation analysis of two families with inherited congenital cataracts.Semantic proximity Read ↗

Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.Semantic proximity Read ↗

Novel mutations associated with autosomal dominant congenital cataract are identified in Chinese familiesSemantic proximity Read ↗

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.Semantic proximity Read ↗

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.Semantic proximity Read ↗

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.Semantic proximity Read ↗

Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.Semantic proximity Read ↗

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.Semantic proximity Read ↗

A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity.Semantic proximity Read ↗

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