De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions-Reference-Cited by-同舟云学术

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Published:2016-05 Issue:5 Volume:98 Page:963-970
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Fregeau Brieana,Kim Bum Jun,Hernández-García Andrés,Jordan Valerie K.,Cho Megan T.,Schnur Rhonda E.,Monaghan Kristin G.,Juusola Jane,Rosenfeld Jill A.,Bhoj Elizabeth,Zackai Elaine H.,Sacharow Stephanie,Barañano Kristin,Bosch Daniëlle G.M.,de Vries Bert B.A.,Lindstrom Kristin,Schroeder Audrey,James Philip,Kulch Peggy,Lalani Seema R.,van Haelst Mieke M.,van Gassen Koen L.I.,van Binsbergen Ellen,Barkovich A. James,Scott Daryl A.,Sherr Elliott H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference38 articles.

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4. Monosomy 1p36;Slavotinek;J. Med. Genet.,1999

5. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation;Battaglia;Pediatrics,2008

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