Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review-Reference-Cited by-同舟云学术

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review

Published:2013-12-19 Issue:3 Volume:164 Page:753-759
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cappuccio Gerarda¹,Genesio Rita²,Ronga Valentina²,Casertano Alberto¹,Izzo Antonella²,Riccio Maria Pia³,Bravaccio Carmela³,Salerno Maria Carolina¹,Nitsch Lucio²,Andria Generoso¹,Melis Daniela¹

Affiliation:

1. Department of Translational Medical Sciences; Federico II University; Naples Italy

2. Department of Cellular and Molecular Biology and Pathology; Federico II University; Naples Italy

3. Department of Child Neuropsychiatry; Second University of Naples; Naples Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion;Carvalho;Am J Med Genet Part A,2011

2. RAD21 mutations cause a human cohesinopathy;Deardorff;Am J Hum Genet,2012

3. Microcephaly-thin corpus callosum syndrome maps to 8q23. JT2-q24.12;Halevy;Pediatr Neurol,2012

4. Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood;Izumi;Am J Med Genet Part A,2010

5. Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene;Kayes-Wandover;J Clin Endocrinol Metab,2001

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