Dwarfism, GON4L-related
Phenotype Details
- Phene ID
- 3811
- Name
- Dwarfism, GON4L-related
- Phene Name
- N/A
- OMIA ID
- 1985
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Summary
FN thanks Hubert Pausch for advice on updating this entry.
Molecular Genetics
In a preprint posted on the Cold Spring Harbor bioRxiv preprint server on 15th January 2016, Schwarzenbacher et al. (2016) documented the likely causal mutation as a 1bp frameshift deletion on chromosome BTA3: rs723240647, g.15079217delC, ENSBTAT00000027126:c.4285_4287delCCCinsCC, p.Glu1430LysfsX66 in exon 20 of the GON4L gene. A peer-reviewed version of this paper (by the same authors; see list below) was published on 31 March.