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Dokumenttyp:
journal article 
Autor(en):
Hempel, Maja; Cremer, Kirsten; Ockeloen, Charlotte W; Lichtenbelt, Klaske D; Herkert, Johanna C; Denecke, Jonas; Haack, Tobias B; Zink, Alexander M; Becker, Jessica; Wohlleber, Eva; Johannsen, Jessika; Alhaddad, Bader; Pfundt, Rolph; Fuchs, Sigrid; Wieczorek, Dagmar; Strom, Tim M; van Gassen, Koen L I; Kleefstra, Tjitske; Kubisch, Christian; Engels, Hartmut; Lessel, Davor 
Titel:
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. 
Abstract:
CHAMP1 encodes a protein with a function in kinetochore-microtubule attachment and in the regulation of chromosome segregation, both of which are known to be important for neurodevelopment. By trio whole-exome sequencing, we have identified de novo deleterious mutations in CHAMP1 in five unrelated individuals affected by intellectual disability with severe speech impairment, motor developmental delay, muscular hypotonia, and similar dysmorphic features including short philtrum and a tented upper...    »
 
Zeitschriftentitel:
Am J Hum Genet 
Jahr:
2015 
Band / Volume:
97 
Heft / Issue:
Seitenangaben Beitrag:
493-500 
Sprache:
eng 
Print-ISSN:
0002-9297 
TUM Einrichtung:
Institut für Humangenetik