Polydactyly

Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes
Jacob W P Potuijt, Jeannette Hoogeboom, Esther de Graaff, Christianne A van Nieuwenhoven, Robert Jan H Galjaard

Journal of Medical Genetics Oct 2020, 57 (10) 660-663; DOI: 10.1136/jmedgenet-2019-106685
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
Kohji Kato, Fuyuki Miya, Nanako Hamada, Yutaka Negishi, Yoko Narumi-Kishimoto, Hiroshi Ozawa, Hidenori Ito, Ikumi Hori, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Yonehiro Kanemura, Kenjiro Kosaki, Yoshiyuki Takahashi, Koh-ichi Nagata, Shinji Saitoh

Journal of Medical Genetics Jun 2019, 56 (6) 388-395; DOI: 10.1136/jmedgenet-2018-105487
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
Kelly A Bear, Benjamin D Solomon, Sonir Antonini, Ivo J P Arnhold, Marcela M França, Erica H Gerkes, Dorothy K Grange, Donald W Hadley, Jarmo Jääskeläinen, Sabrina S Paulo, Patrick Rump, Constantine A Stratakis, Elizabeth M Thompson, Mary Willis, Thomas L Winder, Alexander A L Jorge, Erich Roessler, Maximilian Muenke

Journal of Medical Genetics Jun 2014, 51 (6) 413-418; DOI: 10.1136/jmedgenet-2013-102249

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