Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.
Kara-Mostefa
A
A
Raoul
O
O
Lyonnet
S
S
Amiel
J
J
Munnich
A
A
Vekemans
M
M
Magnier
S
S
Ossareh
B
B
Bonnefont
J P
JP
D000328:Adult; D002648:Child; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003434:Crossing Over, Genetic; D004549:Elastin / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D010375:Pedigree; D018980:Williams Syndrome / Q000235:genetics*
D005819:Genetic Markers; D004549:Elastin