Publications:

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Frontiers In Physiology

Bloch-Zupan, Agnes A; Rey, Tristan T; Jimenez-Armijo, Alexandra A; Kawczynski, Marzena M; Kharouf, Naji N; , ; Dure-Molla, Muriel de La M; Noirrit, Emmanuelle E; Hernandez, Magali M; Joseph-Beaudin, Clara C; Lopez, Serena S; Tardieu, Corinne C; Thivichon-Prince, Béatrice B; , ; Dostalova, Tatjana T; Macek, Milan M; , ; Alloussi, Mustapha El ME; Qebibo, Leila L; Morkmued, Supawich S; Pungchanchaikul, Patimaporn P; Orellana, Blanca Urzúa BU; Manière, Marie-Cécile MC; Gérard, Bénédicte B; Bugueno, Isaac Maximiliano IM; Laugel-Haushalter, Virginie V

Publication Date: 2023

Variant appearance in text: FAM20A: 217C>T; Arg73*

PubMed Link: 37228816

Variant Present in the following documents:

• Main text
• fphys-14-1130175.pdf

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The ABCs of the atypical Fam20 secretory pathway kinases.

The Journal Of Biological Chemistry

Worby, Carolyn A CA; Mayfield, Joshua E JE; Pollak, Adam J AJ; Dixon, Jack E JE; Banerjee, Sourav S

Publication Date: 2021

Variant appearance in text: FAM20A: R73X

PubMed Link: 33759783

Variant Present in the following documents:

• Main text

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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: 217C>T; Arg73*

PubMed Link: 24927635

Variant Present in the following documents:

• Main text
• 1750-1172-9-84.pdf

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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron. Physiology

Jaureguiberry, Graciana G; De la Dure-Molla, Muriel M; Parry, David D; Quentric, Mickael M; Himmerkus, Nina N; Koike, Toshiyasu T; Poulter, James J; Klootwijk, Enriko E; Robinette, Steven L SL; Howie, Alexander J AJ; Patel, Vaksha V; Figueres, Marie-Lucile ML; Stanescu, Horia C HC; Issler, Naomi N; Nicholson, Jeremy K JK; Bockenhauer, Detlef D; Laing, Christopher C; Walsh, Stephen B SB; McCredie, David A DA; Povey, Sue S; Asselin, Audrey A; Picard, Arnaud A; Coulomb, Aurore A; Medlar, Alan J AJ; Bailleul-Forestier, Isabelle I; Verloes, Alain A; Le Caignec, Cedric C; Roussey, Gwenaelle G; Guiol, Julien J; Isidor, Bertrand B; Logan, Clare C; Shore, Roger R; Johnson, Colin C; Inglehearn, Christopher C; Al-Bahlani, Suhaila S; Schmittbuhl, Matthieu M; Clauss, François F; Huckert, Mathilde M; Laugel, Virginie V; Ginglinger, Emmanuelle E; Pajarola, Sandra S; Spartà, Giuseppina G; Bartholdi, Deborah D; Rauch, Anita A; Addor, Marie-Claude MC; Yamaguti, Paulo M PM; Safatle, Heloisa P HP; Acevedo, Ana Carolina AC; Martelli-Júnior, Hercílio H; dos Santos Netos, Pedro E PE; Coletta, Ricardo D RD; Gruessel, Sandra S; Sandmann, Carolin C; Ruehmann, Denise D; Langman, Craig B CB; Scheinman, Steven J SJ; Ozdemir-Ozenen, Didem D; Hart, Thomas C TC; Hart, P Suzanne PS; Neugebauer, Ute U; Schlatter, Eberhard E; Houillier, Pascal P; Gahl, William A WA; Vikkula, Miikka M; Bloch-Zupan, Agnès A; Bleich, Markus M; Kitagawa, Hiroshi H; Unwin, Robert J RJ; Mighell, Alan A; Berdal, Ariane A; Kleta, Robert R

Publication Date: 2012

Variant appearance in text: FAM20A: 217C>T; R73X

PubMed Link: 23434854

Variant Present in the following documents:

• Main text
• nep-0122-0001.pdf

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