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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.
Castori M, Bottillo I, Morlino S, Barone C, Cascone P; Pediatric Craniofacial Malformation (PECRAM) Study Group; Grammatico P, Laino L. Castori M, et al. Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):61-8. doi: 10.1002/bdra.23463. Epub 2015 Dec 11. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26663529
BACKGROUND: Campomelic dysplasia and acampomelic campomelic dysplasia (ACD) are allelic disorders due to heterozygous mutations in or around SOX9. ...
BACKGROUND: Campomelic dysplasia and acampomelic campomelic dysplasia (ACD) are allelic disorders due to heterozygous m …
Acampomelic campomelic dysplasia with SOX9 mutation.
Thong MK, Scherer G, Kozlowski K, Haan E, Morris L. Thong MK, et al. Am J Med Genet. 2000 Aug 28;93(5):421-5. Am J Med Genet. 2000. PMID: 10951468
Acampomelic campomelic dysplasia is a rare clinical variant of the more commonly encountered campomelic dysplasia (CMD1), characterized by absence of long bone curvature (acampomelia). ...
Acampomelic campomelic dysplasia is a rare clinical variant of the more commonly encountered campomelic dysplasia (CMD1 …