Article
Tremor is a major feature of 9p13 deletion syndrome.
American journal of medical genetics. Part A - 1 Nov 2020
Ferreira Susana Isabel, Cinnirella Giacomo, Ramos Lina, Suppa Antonio, Pires Luís Miguel, Nardone Anna Maria, Camerota Letizia, Lanciotti Silvia, Galasso Cinzia, De Maio Fernando, de Melo Joana Barbosa, Carreira Isabel Marques, Brancati Francesco
Abstract excerpt
Proximal interstitial deletions of chromosome 9p13 have been described only in a few patients with developmental delay, moderate intellectual disability, craniofacial dysmorphism, short stature, genital anomalies, and precocious puberty. To corroborate and expand these findings, we report on two novel syndromic male patients with 9p13 deletions suffering from a similar form of tremor and compare them with...
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