Article
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
Birth defects research. Part A, Clinical and molecular teratology - 1 Jan 2016
Castori Marco, Bottillo Irene, Morlino Silvia, Barone Chiara, Cascone Piero, Grammatico Paola, Laino Luigi
Abstract excerpt
BACKGROUND: Campomelic dysplasia and acampomelic campomelic dysplasia (ACD) are allelic disorders due to heterozygous mutations in or around SOX9. Translocations and deletions involving the SOX9 5' regulatory region are rare causes of these disorders, as well as Pierre Robin sequence (PRS) and 46,XY gonadal dysgenesis. Genotype-phenotype correlations are not straightforward due to the complex epigenetic...
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