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Titel:

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

Dokumenttyp:
Journal Article; Article
Autor(en):
Alhaddad, Bader; Schossig, Anna; Haack, Tobias B; Kovacs-Nagy, Reka; Braunisch, Matthias C; Makowski, Christine; Senderek, Jan; Vill, Katharina; Müller-Felber, Wolfgang; Strom, Tim M; Krabichler, Birgit; Freisinger, Peter; Deshpande, Charu; Polster, Tilman; Wolf, Nicole I; Desguerre, Isabelle; Wörmann, Friedrich; Rötig, Agnes; Ahting, Uwe; Kopajtich, Robert; Prokisch, Holger; Meitinger, Thomas; Feichtinger, René G; Mayr, Johannes A; Jungbluth, Heinz; Hubmann, Michael; Zschocke, Johannes; Distelm...     »
Abstract:
BACKGROUND: Primary microcephaly and profound global developmental delay have been considered the core clinical phenotype in patients with bi-allelic PRUNE1 mutations. METHODS: Linkage analysis and whole-exome sequencing (WES) in a multiplex family and extraction of further cases from a WES repository containing 571 children with severe developmental disabilities and neurologic symptoms. RESULTS: We identified bi-allelic PRUNE1 mutations in twelve children from six unrelated families. All patien...     »
Zeitschriftentitel:
Neuropediatrics
Jahr:
2018
Band / Volume:
49
Heft / Issue:
5
Seitenangaben Beitrag:
330-338
Volltext / DOI:
doi:10.1055/s-0038-1661396
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/29940663
Print-ISSN:
0174-304X
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik; Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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