CELSR2 , encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency-Reference-Cited by-同舟云学术

CELSR2 , encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

Published:2017-01-04 Issue:3 Volume:173 Page:661-666
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Vilboux Thierry¹²,Malicdan May Christine V.¹³,Roney Joseph C.¹,Cullinane Andrew R.¹⁴,Stephen Joshi¹,Yildirimli Deniz¹,Bryant Joy¹,Fischer Roxanne¹,Vemulapalli Meghana⁵,Mullikin James C.⁵,Steinbach Peter J.⁶,Gahl William A.¹³⁷,Gunay-Aygun Meral¹⁷,

Affiliation:

1. Section of Human Biochemical Genetics; Medical Genetics Branch; National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

2. Inova Translational Medicine Institute; Falls Church; Virginia

3. NIH Undiagnosed Diseases Program; Common Fund; Office of the Director National Institutes of Health Bethesda Maryland

4. Department of Anatomy; Howard University College of Medicine; Washington DC

5. NIH Intramural Sequencing Center (NISC); National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

6. Center for Molecular Modeling; Center for Information Technology; National Institutes of Health; Bethesda Maryland

7. Office of the Clinical Director; National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

Funder

Intramural Research Program of the National Human Genome Research Institute

Center for Information Technology, National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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