rs786205866
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We described a new case, a boy with severe intellectual disability with absent speech, autistic spectrum disorder, mild dysmorphic facial features, failure to thrive and epilepsy associated to a de novo heterozygous missense mutation in EEF1A2 (c.364G>A; p.Glu122Lys) identified by next generation sequencing; it was already reported in other studies.
|
31477274 |
2020 |
rs1253103806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Only the second compound heterozygous IGF1R mutations to be identified, the p.E121K/E234K variant is the cause of intrauterine growth retardation and the most severe postnatal growth failure described to date in a patient with IGF1R defects.
|
22130793 |
2012 |
rs142920240
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?
|
22274833 |
2012 |
rs77932196
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Persisting respiratory symptoms and failure to thrive prompted cystic fibrosis diagnostics, which showed the lack of wild-type signal for the mutation R347P suggesting a homozygous deletion or an alteration different from the known mutation at this position.
|
22274833 |
2012 |
rs1218653273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory.
|
17785701 |
2007 |
rs137853220
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory.
|
17785701 |
2007 |
rs557914261
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory.
|
17785701 |
2007 |
rs6190
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 23K variant of the R23K polymorphism in the glucocorticoid receptor gene protects against postnatal growth failure and insulin resistance after preterm birth.
|
17848410 |
2007 |
rs75961395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Comparison of 55 G85E patients (with second mutation known and not classified as mild) with PS controls (n=44) showed that the G85E patients had a significantly higher sweat chloride, more often failure to thrive at diagnosis, higher prevalence of PI, worse current weight for height, higher prevalence of chronic P. aeruginosa colonisation and liver cirrhosis.
|
15176679 |
2004 |
rs104893755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A previously described heterozygous Arg271Trp mutation in exon 6 of the POU1F1 gene was identified in a female infant who presented with growth failure and was diagnosed with TSH then GH deficiencies.
|
12780757 |
2003 |