Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream ofSOX9, and includingKCNJ2andKCNJ16-Reference-Cited by-同舟云学术

Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream ofSOX9, and includingKCNJ2andKCNJ16

Published:2015-12-11 Issue:1 Volume:106 Page:61-68
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research Part A: Clinical and Molecular Teratology

Author:

Castori Marco¹,Bottillo Irene¹,Morlino Silvia¹,Barone Chiara²,Cascone Piero³,Grammatico Paola¹,Laino Luigi¹,

Affiliation:

1. Division of Medical Genetics, Department of Molecular Medicine; Sapienza University, San Camillo-Forlanini Hospital; Rome Italy

2. Center for Genetic Counseling and Reproductive Teratology, Maternal and Child Health Department; Garibaldi Nesima Hospital; Catania Italy

3. Division of Maxillo-Facial Surgery, Sapienza University, Policlinico Umberto I Hospital; Rome Italy

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/bdra.23463/fullpdf

Reference43 articles.

1. Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect;Amarillo;Am J Med Genet A,2013

2. Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern;Bagheri-Fam;Dev Biol,2006

3. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence;Benko;Nat Genet,2009

4. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development;Benko;J Med Genet,2011

5. Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene;Bhagavath;Mol Cell Endocrinol,2014

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