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Douzgou, S; Clayton-Smith, J; Gardner, S; Day, R; Griffiths, P; Strong, K; Amiel, J; Baraitser, M; Brueton, L; Brunner, H; Chrzanowska, K; Dallapiccola, B; Del Campo Casanelles, M; Devriendt, K; Donnai, D; Fitzpatrick, D; Gillessen-Kaesbach, G; Houge, G; Kerr, B; Krajewska-Walasek, M; Lacombe, D; Meinecke, P; Metcalfe, K; Mortier, G; Odent, S; Philip, N; Prescott, T; Raas-Rothschild, A; Rauch, A; Rittinger, O; Salonen, R; Schrander-Stumpel, C; Suri, M; Temple, K; Tolmie, J; Van Der Burgt, I; Verloes, A; Wieczorek, D; Zenker, M (2014). Dysmorphology at a distance: results of a web-based diagnostic service. European Journal of Human Genetics, 22(3):327-332.

Le Goff, C; Mahaut, C; Wang, L W; Allali, S; Abhyankar, A; Jensen, S; Zylberberg, L; Collod-Beroud, G; Bonnet, D; Alanay, Y; Brady, A F; Cordier, M P; Devriendt, K; Genevieve, D; Kiper, P Ö S; Kitoh, H; Krakow, D; Lynch, S A; Le Merrer, M; Mégarbane, A; Mortier, G; Odent, S; Polak, M; Rohrbach, M; Sillence, D; Stolte-Dijkstra, I; Superti-Furga, A; Rimoin, D L; Topouchian, V; Unger, S; Zabel, B; Bole-Feysot, C; Nitschke, P; Handford, P; Casanova, J L; Boileau, C; Apte, S S; Munnich, A; Cormier-Daire, V (2011). Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. American Journal of Human Genetics, 89(1):7-14.

Orrico, A; Galli, L; Faivre, L; Clayton-Smith, J; Azzarello-Burri, S M; Hertz, J M; Jacquemont, S; Taurisano, R; Arroyo Carrera, I; Tarantino, E; Devriendt, K; Melis, D; Thelle, T; Meinhardt, U; Sorrentino, V (2010). Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of theFGD1gene. American Journal of Medical Genetics. Part A, 152A(2):313-318.

This list was generated on Wed Jan 24 06:15:48 2018 CET.