Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome
Author:
Affiliation:
1. Department of Genetics; University of Alabama at Birmingham; Birmingham; Alabama
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36004/fullpdf
Reference24 articles.
1. Severe craniosynostosis in an infant with deletion 22q11.2 syndrome;Al-Hertani;Am J Med Genet Part A,2013
2. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2;Budarf;Hum Mol Genet,1995
3. Is there a Baller-Gerold syndrome;Cohen;Am J Med Genet,1996
4. Upper limb malformations in DiGeorge syndrome;Cormier-Daire;Am J Med Genet,1995
5. Baller-Gerold syndrome: Case report and clinical and radiological review;Dallapiccola;Am J Med Genet,1992
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1. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition;Genetics in Medicine;2020-02
2. Prenatal diagnosis of radial ray defects by ultrasound: A report of 6 cases;Taiwanese Journal of Obstetrics and Gynecology;2018-08
3. Genetic advances in craniosynostosis;American Journal of Medical Genetics Part A;2017-02-04
4. Oculofacial Manifestations of Chromosomal Aberrations;The Eye in Pediatric Systemic Disease;2017
5. The Molecular Genetics of Hypoparathyroidism;The Parathyroids;2015
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