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Document type:
journal article 
Author(s):
Puusepp, Sanna; Kovacs-Nagy, Reka; Alhaddad, Bader; Braunisch, Matthias; Hoffmann, Georg F; Kotzaeridou, Urania; Lichvarova, Lucia; Liiv, Mailis; Makowski, Christine; Mandel, Merle; Meitinger, Thomas; Pajusalu, Sander; Rodenburg, Richard J; Safiulina, Dzhamilja; Strom, Tim M; Talvik, Inga; Vaarmann, Annika; Wilson, Callum; Kaasik, Allen; Haack, Tobias B; Õunap, Katrin 
Title:
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. 
Abstract:
Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial function and brain developmental processes. However no functional studies have been performed. This study describes five patients with psychomotor developmental delay, microcephaly, epilepsy and hearin...    »
 
Journal title abbreviation:
Eur J Hum Genet 
Year:
2018 
Journal volume:
26 
Journal issue:
Pages contribution:
407-419 
Language:
eng 
Print-ISSN:
1018-4813 
TUM Institution:
Klinik und Poliklinik für Kinder- und Jugendmedizin