Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies
Author:
Affiliation:
1. Stanford University School of Medicine; Stanford California
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37538/fullpdf
Reference75 articles.
1. De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly;Aboura;Am J Med Genet,2002
2. Neonatal outcomes of Pierre Robin sequence: An institutional experience;Al-Samkari;Clin Pediatr (Phila),2010
3. 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
4. A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX;Ansari;Eur J Med Genet,2014
5. Etiology and pathogenesis of robin sequence in a large Dutch cohort;Basart;Am J Med Genet A,2015
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