Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Frontiers In Physiology
Smith, Claire E L CEL; Poulter, James A JA; Antanaviciute, Agne A; Kirkham, Jennifer J; Brookes, Steven J SJ; Inglehearn, Chris F CF; Mighell, Alan J AJ
Publication Date: 2017
Variant appearance in text: FAM20A: 1207G>A; D403N
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.
Orphanet Journal Of Rare Diseases
de la Dure-Molla, Muriel M; Quentric, Mickael M; Yamaguti, Paulo Marcio PM; Acevedo, Ana-Carolina AC; Mighell, Alan J AJ; Vikkula, Miikka M; Huckert, Mathilde M; Berdal, Ariane A; Bloch-Zupan, Agnes A
Publication Date: 2014-06-14
Variant appearance in text: FAM20A: 1207G>A; Asp403Asn