Sentence examples for mutations present with from inspiring English sources

CACNA1A mutations present with a wide clinical spectrum.

Thus far, families with reported CDKN1B mutations present with a variant of the autosomal dominant MEN1 syndrome.

It has been demonstrated that most tumours with activating EGFR mutations present with a non-squamous histology.

Most commonly, patients with MAPT mutations present with a bvFTD-like phenotype [ 100] in which extrapyramidal features may also be present.

Patients with Parkin mutations present with levodopa-responsive Parkinson's disease accompanied frequently by motor fluctuations and dyskinesias that often develop early in the course of treatment.

In our patients, the pathogenic mutations present with R229Q were L327F in Case 1 and A297V in Case 2, both in exon 8.

Interestingly, three subjects with CYP2U1 mutations presented with a thin corpus callosum, white-matter abnormalities, and/or calcification of the basal ganglia.

A French patient with ABCA3 mutations presented with combined pulmonary fibrosis and emphysema (CPFE) [ 46].

The two patients with KCNJ11 mutations presented with diabetes between 1 and 3 months of age.

Additionally, 24%% of Coffin-Siris patients without identified mutations presented with short stature.

Four patients with SF1 mutations presented with the similar phenotype of mild gonadal dysgenesis, severe underandrogenization, and absent Müllerian structures.