ArticleClinical genetics2012
Clinical findings in patients with GLI2 mutations--phenotypic variability.
Article in Clinical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 64 citations in OpenAlex.
- Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies.Research square · 2025Article
- A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene.BMC pediatrics · 2025Article
- Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies.Research square · 2025Article
- Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss.Journal of human genetics · 2025Article
- A Novel Missense Variant inChildren (Basel, Switzerland) · 2025Article
- Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.Italian journal of pediatrics · 2025Review
- Case Report: A case of Culler-Jones syndrome caused byFrontiers in pediatrics · 2025Article
- Heterozygous missense variant in GLI2 impairs human endocrine pancreas development.Nature communications · 2024Article
- Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.Children (Basel, Switzerland) · 2023Review
- Exome sequencing improves genetic diagnosis of congenital orofacial clefts.Frontiers in genetics · 2023Article
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.Frontiers in endocrinology · 2022Article
- The Genetic Backdrop of Hypogonadotropic Hypogonadism.International journal of molecular sciences · 2021Review
- Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.International journal of molecular sciences · 2021Review
- The Mandibular and Hyoid Arches-From Molecular Patterning to Shaping Bone and Cartilage.International journal of molecular sciences · 2021Review
- Comparative genomic analysis of human GLI2 locus using slowly evolving fish revealed the ancestral gnathostome set of early developmental enhancers.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.Human genetics · 2021Article
- Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in theJournal of clinical research in pediatric endocrinology · 2020Article
- The Roles of Indian Hedgehog Signaling in TMJ Formation.International journal of molecular sciences · 2019Review
- De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.American journal of human genetics · 2019Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like (HPE-L) phenotypes and postaxial polydactyly. Subsequently, anophthalmia plus orbital anomalies, heminasal aplasia, branchial arch anomalies and polydactyly have also been incorporated into the general phenotype. Here we described six Brazilian patients with phenotypic manifestations that range from isolated cleft lip/palate with polydactyly, branchial arch anomalies to semi-lobar holoprosencephaly. Novel sequence variants were found in the GLI2 gene in patients with marked involvement of the temporomandibular joint (TMJ), a new clinical finding observed with mutations of this gene. Clinical, molecular and genetic aspects are discussed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.