Amelogenesis imperfectaGene: SMARCD2
Witzel et al. (2017, PMID:28369036) reported 4 patients from 3 unrelated consanguineous families with SGD2. 2 unrelated patients had additional features, including incomplete amelogenesis. They identified distinct segregating homozygous mutations in SMARCD2 in all three pedigrees.
Created: 12 Jun 2017, 9:10 a.m.
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
SMARCD2 was added to Amelogenesis Imperfectapanel. Sources: Other
SMARCD2 was created by rfoulger