Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome-Reference-Cited by-同舟云学术

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

Published:2013-03-31 Issue:5 Volume:45 Page:556-562
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

McDonell Laura M, ,Mirzaa Ghayda M,Alcantara Diana,Schwartzentruber Jeremy,Carter Melissa T,Lee Leo J,Clericuzio Carol L,Graham John M,Morris-Rosendahl Deborah J,Polster Tilman,Acsadi Gyula,Townshend Sharron,Williams Simon,Halbert Anne,Isidor Bertrand,David Albert,Smyser Christopher D,Paciorkowski Alex R,Willing Marcia,Woulfe John,Das Soma,Beaulieu Chandree L,Marcadier Janet,Geraghty Michael T,Frey Brendan J,Majewski Jacek,Bulman Dennis E,Dobyns William B,O'Driscoll Mark,Boycott Kym M

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2602.pdf

Reference31 articles.

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2. Isidor, B., Barbarot, S., Bénéteau, C., Le Caignec, C. & David, A. Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndrome. Am. J. Med. Genet. A. 155A, 1458–1460 (2011).

3. Mirzaa, G.M. et al. The microcephaly-capillary malformation syndrome. Am. J. Med. Genet. A. 155A, 2080–2087 (2011).

4. Carter, M.T. & Boycot, K.M. Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity. Am. J. Med. Genet. A. 155A, 2078–2079 (2011).

5. Jacobs, A.H. & Walton, R.G. The incidence of birthmarks in the neonate. Pediatrics 58, 218–222 (1976).

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