Sentence examples for mutation presenting with from inspiring English sources

Furthermore, germline SDH mutation presenting with pituitary neoplasia is extremely rare (none in 309 consecutive adenomas).

Thus, to our knowledge, this is the first reported case of this mutation presenting with precocious puberty.

Here, we report the clinical, neuroimaging and neuropathologic characteristics of a kindred with a novel P112H TARDBP mutation presenting with frontotemporal dementia without motor neuron disease and featuring TDP-43-positive inclusions, tau-negative abundant β-amyloid neuritic plaques and atypical 4R-tauopathy.

Patients carrying one 199T>C mutation presented with residual activities above 10%.

Thus, it is not surprising that the patient carrying the F1473C mutation presented with extreme QT prolongation (approximately 800 ms).

Dinour [ 6] reported that three male Israeli-Arab patients with a homozygous L75R mutation presented with EIAKI.

Both patients with the homozygous INS promoter mutation presented with NDM within the first week of life.

Eighty-four percent (21/25) of patients with a PIK3CA mutation presented with low-stage disease, compared to 64% (18/28; 2 cases with missing stage) without a mutation.

In contrast, patients with the G151R mutation presented with clinical features similar to those noted among the family described initially with the germline T158A mutation in KCNJ5.

All patients with a genetic mutation presented with behavioural variant FTD apart from one patient with a C9orf72 expansion who presented with PNFA.

Individuals homozygous for the g13185_13186insAG ENAM mutation had hypoplastic enamel pitting with an anterior open bite, while those who were heterozygous for this mutation presented with only enamel pitting.