Filter By:

Journal Check one or more journals to show results from those journals only.

Choose more journals

Article type Check one or more article types to show results from those article types only.
Subject Check one or more subjects to show results from those subjects only.
Date Choose a date option to show results from those dates only.

Custom date range

Clear all filters
Sort by:
Showing 1–2 of 2 results
Advanced filters: Author: Gianfranco Bocchinfuso Clear advanced filters
  • Marco Tartaglia, Raoul Hennekam and colleagues show that de novo mutations in ZBTB20 cause Primrose syndrome, a disorder characterized by tall stature, macrocephaly, intellectual disability, diabetes, deafness, progressive muscle wasting and ectopic calcifications.

    • Viviana Cordeddu
    • Bert Redeker
    • Raoul C Hennekam
    Research
    Nature Genetics
    Volume: 46, P: 815-817
  • Kerstin Kutsche, Marco Tartaglia and colleagues show that missense mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome, a disorder characterized by facial dysmorphism, intellectual disability, digit anomalies and hypertrichosis. Functional studies indicate that the KCNH1 mutations lead to altered channel activity.

    • Fanny Kortüm
    • Viviana Caputo
    • Kerstin Kutsche
    Research
    Nature Genetics
    Volume: 47, P: 661-667