1
Results: We identified bi-allelic PRUNE1 mutations in twelve children from six unrelated families.
2
The novel W748S mutation was identified in five patients from three unrelated families.
3
We performed clinical and molecular studies in 36 subjects from three unrelated families.
4
We examined six consecutive cases of ICH from five unrelated families and their parents.
5
Sixteen individuals from 14 unrelated families, originating from five institutions, had been evaluated comprehensively.
6
The missense mutation A614V was found in two unrelated families.
7
Patients or other participants: Members of two unrelated families with HHRH participated in the study.
8
We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families.
9
Eight different germline MEN1 mutations were encountered repeatedly in two or more apparently unrelated families.
10
Aim: To describe the clinical and molecular features of Italian unrelated families with central diabetes insipidus.
11
A cohort of six unrelated families was identified.
12
Here we describe seven Italian patients belonging to five unrelated families with clinical features typical of JH.
13
Results: 243 patients of 156 unrelated families from 15 Spanish centers were included.
14
Results: We compared the observed clinical features and variants of 11 affected individuals from the six unrelated families.
15
We report on 54 Spanish patients with McArdle's disease from 40 unrelated families.
16
In many cases, the living space was also shared by sickly or no-good relatives and even by unrelated families.
