The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping-Reference-Cited by-同舟云学术

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

Published:2019-04 Issue:4 Volume:104 Page:749-757
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Marbach Felix,Rustad Cecilie F.,Riess Angelika,Đukić Dejan,Hsieh Tzung-Chien,Jobani Itamar,Prescott Trine,Bevot Andrea,Erger Florian,Houge Gunnar,Redfors Maria,Altmueller Janine,Stokowy Tomasz,Gilissen Christian,Kubisch Christian,Scarano Emanuela,Mazzanti Laura,Fiskerstrand Torunn,Krawitz Peter M.,Lessel Davor,Netzer Christian

Funder

German Research Foundation

Bergen Research Foundation

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference27 articles.

1. Nuclear envelopathies--raising the nuclear veil;Somech;Pediatr. Res.,2005

2. Phenotype and course of Hutchinson-Gilford progeria syndrome;Merideth;N. Engl. J. Med.,2008

3. Broken nuclei--lamins, nuclear mechanics, and disease;Davidson;Trends Cell Biol.,2014

4. Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations;Cabanillas;Am. J. Med. Genet. A.,2011

5. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis;Hellemans;Nat. Genet.,2004

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