Literature record
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
PMID 23211637 | DOI 10.1097/MCD.0b013e32835b6dc4 · Clinical dysmorphology · 2013
In this report, we describe a kindred consisting of five affected males presenting with many of the well-recognized features of Aarskog-Scott syndrome. The diagnosis, which was confirmed by the identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy. These features should be considered in the evaluation of future patients.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FGD1 | “Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.” | 0.93 | phenotype_alias_lexicon_v2 |