We report two unrelated female patients born to consanguineousparents presenting with this condition.
2
Here, we describe a Moroccan girl of consanguineousparents with optic atrophy and cerebellar atrophy.
3
She was the only child of consanguineousparents.
4
They are two siblings born from consanguineousparents.
5
Maternal inheritance was not apparent in all three cases; however, two patients were born to consanguineousparents.
6
Here we report four Dutch NS patients, two male and two female, each with unaffected consanguineousparents.
7
They had consanguineousparents and were both homozygous for two known disease-causing mutations of the FAH gene.
8
Three cases had consanguineousparents, but the absence of M-A among previous sibs does not support autosomal recessive inheritance.
9
Here, we report on the clinical, cytogenetic, and molecular findings in a child of healthy consanguineousparents suffering from MOMO syndrome.
10
A second Iranian family with consanguineousparents hosting an identical heterozygous variant had 2 children die in childhood from cardiac failure.
11
The identical heterozygous mutation of CaSR gene was observed in consanguineousparents and all other family members examined except her two sisters.
12
Methods: We analyzed a patient born to consanguineousparents suffering from severe intestinal manifestations since 6 months of age and later diagnosed as IBD.
13
In Table XXVI it will be seen that 52.5 per cent of the deaf-mute offspring of consanguineousparents were the offspring of first cousin marriages.