Expanding the Phenotype of a Neurofibromatosis Type 1–Like Syndrome: A Patient With a SPRED1 Mutation and Orbital Manifestations
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Post-publication record
- Nature
- Retraction
- Reason
- Error in Data;Error in Results and/or Conclusions;Miscommunication with/by Author;Unreliable Data;Unreliable Results and/or Conclusions;
- Date
- 3/1/2010 0:00
- Flagged by OpenAlex?
- Yes
Source: Retraction Watch, joined by DOI. OpenAlex records retraction as is_retracted, a boolean over a state space with at least four values, so it cannot express an expression of concern, a correction or a reinstatement — it reports them as false, which reads as “fine”.
Abstract
A 4-year-old child with no medical history presented for evaluation of a small, palpable nodule near the left inferolateral rim. The lesion had a bluish hue and had been slowly enlarging over the course of several months. MRI of the orbits revealed a heterogenous and infiltrative preseptal and extraconal mass which enhanced with gadolinium, and sphenoid wing dysplasia on the left. A complete ophthalmic and physical examination failed to reveal any other stigmata of neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (NF2). An incisional biopsy of the palpable mass revealed a plexiform neurofibroma. Molecular sequencing of the NF1 and NF2 genes did not reveal causative mutations. Further investigation revealed a loss of function mutation in SPRED1 on chromosome 15. Although loss of function mutations in the SPRED1 gene are known to cause several dermatologic changes associated with the NF1-like phenotype, to our knowledge, this is the first description of a SPRED1 gene mutation resulting in ophthalmic abnormalities.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
The record
- Venue
- Ophthalmic Plastic and Reconstructive Surgery
- Topic
- Neurofibromatosis and Schwannoma Cases
- Field
- Medicine
- Canadian institutions
- Object Research Systems (Canada)
- Funders
- Massachusetts General Hospital
- Keywords
- MedicineNeurofibromatosisDermatologyPathologyMutationBiopsyNeurofibromatosis type 2NeurofibromatosesGeneticsGeneBiology
- Has abstract in OpenAlex
- yes