Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome-Reference-Cited by-同舟云学术

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

Published:2014-09 Issue:9 Volume:16 Page:720-724
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Schaefer Elise,Collet Corinne,Genevieve David,Vincent Marie,Lohmann Dietmar R.,Sanchez Elodie,Bolender Chantal,Eliot Marie-Madeleine,Nürnberg Gudrun,Passos-Bueno Maria-Rita,Wieczorek Dagmar,van Maldergem Lionel,Doray Bérénice

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201412.pdf

Reference13 articles.

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3. Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of malar bones.;Collins;Tr Ophth Sol United Kingdom,1900

4. Syndromes of the Head and Neck, 4th edn;Gorlin,2001

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