Mutations in PYCR1 cause cutis laxa with progeroid features-Reference-Cited by-同舟云学术

Mutations in PYCR1 cause cutis laxa with progeroid features

Published:2009-08-02 Issue:9 Volume:41 Page:1016-1021
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Reversade Bruno,Escande-Beillard Nathalie,Dimopoulou Aikaterini,Fischer Björn,Chng Serene C,Li Yun,Shboul Mohammad,Tham Puay-Yoke,Kayserili Hülya,Al-Gazali Lihadh,Shahwan Monzer,Brancati Francesco,Lee Hane,O'Connor Brian D,Kegler Mareen Schmidt-von,Merriman Barry,Nelson Stanley F,Masri Amira,Alkazaleh Fawaz,Guerra Deanna,Ferrari Paola,Nanda Arti,Rajab Anna,Markie David,Gray Mary,Nelson John,Grix Arthur,Sommer Annemarie,Savarirayan Ravi,Janecke Andreas R,Steichen Elisabeth,Sillence David,Haußer Ingrid,Budde Birgit,Nürnberg Gudrun,Nürnberg Peter,Seemann Petra,Kunkel Désirée,Zambruno Giovanna,Dallapiccola Bruno,Schuelke Markus,Robertson Stephen,Hamamy Hanan,Wollnik Bernd,Van Maldergem Lionel,Mundlos Stefan,Kornak Uwe

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

https://www.nature.com/articles/ng.413.pdf

Reference35 articles.

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2. Morava, E. et al. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur. J. Hum. Genet. 16, 28–35 (2008).

3. Guerra, D. et al. The De Barsy syndrome. J. Cutan. Pathol. 31, 616–624 (2004).

4. Zhang, M.C. et al. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J. Biol. Chem. 274, 981–986 (1999).

5. Al-Gazali, L.I., Sztriha, L., Skaff, F. & Haas, D. Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? Am. J. Med. Genet. 101, 213–220 (2001).

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