Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome-Reference-Cited by-同舟云学术

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Published:2012-02 Issue:2 Volume:90 Page:308-313
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Hood Rebecca L.,Lines Matthew A.,Nikkel Sarah M.,Schwartzentruber Jeremy,Beaulieu Chandree,Nowaczyk Małgorzata J.M.,Allanson Judith,Kim Chong Ae,Wieczorek Dagmar,Moilanen Jukka S.,Lacombe Didier,Gillessen-Kaesbach Gabriele,Whiteford Margo L.,Quaio Caio Robledo D.C.,Gomy Israel,Bertola Debora R.,Albrecht Beate,Platzer Konrad,McGillivray George,Zou Ruobing,McLeod D. Ross,Chudley Albert E.,Chodirker Bernard N.,Marcadier Janet,Majewski Jacek,Bulman Dennis E.,White Susan M.,Boycott Kym M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference16 articles.

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2. The Floating-Harbor syndrome;Leisti;Birth Defects Orig. Artic. Ser.,1975

3. A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome);Robinson;J. Pediatr.,1988

4. The phenotype of Floating-Harbor syndrome in 10 patients;White;Am. J. Med. Genet. A.,2010

5. Floating-Harbor syndrome: Description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance;Lacombe;Eur. J. Pediatr.,1995

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