A microdeletion encompassingPHF21Ain an individual with global developmental delay and craniofacial anomalies-Reference-Cited by-同舟云学术

A microdeletion encompassingPHF21Ain an individual with global developmental delay and craniofacial anomalies

Published:2015-09-03 Issue:12 Volume:167 Page:3011-3018
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Labonne Jonathan D. J.¹²,Vogt Julie³,Reali Lisa³,Kong Il-Keun⁴,Layman Lawrence C.¹²⁵,Kim Hyung-Goo¹²

Affiliation:

1. Section of Reproductive Endocrinology, Infertility and Genetics; Department of Obstetrics and Gynecology; Georgia Regents University; Augusta Georgia

2. Department of Neuroscience and Regenerative Medicine; Georgia Regents University; Augusta Georgia

3. West Midlands Regional Genetics Service; Birmingham Women's Hospital; Birmingham United Kingdom

4. Department of Animal Science; Division of Applied Life Science; Gyeongsang National University; Jinju Gyeongsangnam-do Republic of Korea

5. Department of Physiology; Medical College of Georgia; Georgia Regents University; Augusta Georgia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37344/fullpdf

Reference21 articles.

1. The transcriptional repressor REST determines the cell-specific expression of the human MAPK8IP1 gene encoding IB1 (JIP-1);Abderrahmani;Mol Cell Biol,2001

2. Microdeletion syndromes;Carvill;Curr Opin Genet Dev,2013

3. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome;Dode;Nat Genet,2003

4. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay;Girirajan;Nat Genet,2010

5. A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes;Hakimi;J Biol Chem,2003

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