Encara no tenim significats per a "affect siblings".
1We have characterized a family comprising two affected siblings born to healthy parents.
2Three affected siblings had the characteristic features of Setleis syndrome.
3Three affected siblings had characteristic white matter abnormalities and presented with progressive neurological decline.
4Sanger sequencing confirmed the presence of the homozygous mutation in the other three affected siblings.
5It was observed that the segregation of NRAMP1 haplotypes into affected siblings was significantly nonrandom.
6The presence of psychotic symptoms in AD confers increased risk of similar symptoms to affected siblings.
7Purpose: We revisited 42 families with two or more cleft- affected siblings who participated in previous studies.
8Gender was randomly distributed among bipolar sibships, demonstrating the absence of gender resemblance among affected siblings.
9In order to test this hypothesis, we studied 102 sibships with two or more affected siblings.
10We observed gonosomal mosaicism for a variant in PAX3 in an asymptomatic father of two affected siblings.
11To identify the causative gene(s), exome sequencing was performed in a family with two affected siblings.
12To assess the significance of secondary cases we compare the incidence of affected siblings between probands and their spouses.
13No intrafamilial correlation was found for the gender of affected siblings, suggesting that familial vulnerability factors are not gender-specific.
14The null hypothesis of a random distribution of affected siblings was rejected (P=0.005).
15Conclusions: We have identified mutations in PLA2G4A as a cause of CMUSE in two affected siblings.
16Sanger sequencing confirmed the presence of this variant in a homozygous state in the two affected siblings, while both parents were heterozygous.