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

Variable phenotypic manifestations of a K44N mutation in the TGIF gene.

Brain & development - 1 Mar 2008

Richieri-Costa Antonio, Ribeiro Lucilene Arilho

Abstract excerpt

The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and screened for molecular analysis of the major HPE causative genes: SHH, PTCH, SIX...

Read the complete abstract on PubMed

Topics

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

Share to Asparagine
Share to Child
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Holoprosencephaly

Share to Homeodomain Proteins

Share to Lysine

Share to Mutation

Share to Repressor Proteins

Source

Identifiers

PMID: 17825514
DOI: 10.1016/j.braindev.2007.07.012

Genes

GLI2
SHH
SIX3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17825514-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variable phenotypic manifestations of a K44N mutation in the TGIF gene.PMID 17825514Read ↗

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Semantic proximity Read ↗

Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.Semantic proximity Read ↗

Phenotypic and molecular variability of the holoprosencephalic spectrum.Semantic proximity Read ↗

Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside.Semantic proximity Read ↗

Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly.Semantic proximity Read ↗

Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis.Semantic proximity Read ↗

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.Semantic proximity Read ↗

Holoprosencephaly-like phenotype: clinical and genetic perspectives.Semantic proximity Read ↗

Mutations in holoprosencephaly.Semantic proximity Read ↗

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.Semantic proximity Read ↗

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.Semantic proximity Read ↗

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.Semantic proximity Read ↗

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