Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome-Reference-Cited by-同舟云学术

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Published:2015-09 Issue:3 Volume:97 Page:475-482
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Meester Josephina A.N.,Southgate Laura,Stittrich Anna-Barbara,Venselaar Hanka,Beekmans Sander J.A.,den Hollander Nicolette,Bijlsma Emilia K.,Helderman-van den Enden Appolonia,Verheij Joke B.G.M.,Glusman Gustavo,Roach Jared C.,Lehman Anna,Patel Millan S.,de Vries Bert B.A.,Ruivenkamp Claudia,Itin Peter,Prescott Katrina,Clarke Sheila,Trembath Richard,Zenker Martin,Sukalo Maja,Van Laer Lut,Loeys Bart,Wuyts Wim

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference24 articles.

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2. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects;Snape;Am. J. Med. Genet. A.,2009

3. RBPJ mutations identified in two families affected by Adams-Oliver syndrome;Hassed;Am. J. Hum. Genet.,2012

4. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome;Shaheen;Am. J. Hum. Genet.,2013

5. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome;Shaheen;Am. J. Hum. Genet.,2011

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