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

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

American journal of medical genetics. Part A - 1 Dec 2006

Ribeiro Lucilene Arilho, Murray Jeffrey C, Richieri-Costa Antonio

Abstract excerpt

We report five Brazilian probands with PATCHED (PTCH) mutations and highly variable phenotypes with holoprosencephaly in four cases and holoprosencephaly-like facial features with a normal MRI in a fifth case. Three of our mutations were novel: Ala443Gly, Val751Gly, and Val908Gly. Two patients had the same mutation (Val908Gly), but were phenotypically different: alobar holoprosencephaly, absent nasal septum, and...

Read the complete abstract on PubMed

Topics

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

Share to Patched-1 Receptor
Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brazil

Share to Cleft Lip

Share to Holoprosencephaly

Share to Magnetic Resonance Imaging

Share to Patched Receptors

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 17001668
DOI: 10.1002/ajmg.a.31369

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

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.PMID 17001668Read ↗

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

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

Holoprosencephaly: clinical, anatomic, and molecular dimensions.Semantic proximity Read ↗

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?Semantic proximity Read ↗

Variable phenotypic manifestations of a K44N mutation in the TGIF gene.Semantic proximity Read ↗

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.Semantic proximity Read ↗

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

Holoprosencephaly.Semantic proximity Read ↗

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

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

Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles.Semantic proximity Read ↗

Analysis of genotype-phenotype correlations in human holoprosencephaly.Semantic proximity Read ↗

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