Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly-Reference-Cited by-同舟云学术

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Published:2012-02 Issue:2 Volume:90 Page:369-377
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lines Matthew A.,Huang Lijia,Schwartzentruber Jeremy,Douglas Stuart L.,Lynch Danielle C.,Beaulieu Chandree,Guion-Almeida Maria Leine,Zechi-Ceide Roseli Maria,Gener Blanca,Gillessen-Kaesbach Gabriele,Nava Caroline,Baujat Geneviève,Horn Denise,Kini Usha,Caliebe Almuth,Alanay Yasemin,Utine Gulen Eda,Lev Dorit,Kohlhase Jürgen,Grix Arthur W.,Lohmann Dietmar R.,Hehr Ute,Böhm Detlef,Majewski Jacek,Bulman Dennis E.,Wieczorek Dagmar,Boycott Kym M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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4. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate;Guion-Almeida;Clin. Dysmorphol.,2006

5. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome;Wieczorek;Am. J. Med. Genet. A.,2009

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