Last Updated: 09/26/2026
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Found 10 publications
Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
Journal: PloS one
Published: October 17, 2015
A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
Journal: PloS one
Published: March 20, 2015
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Journal: Nature genetics
Published: October 14, 2014
A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.
Journal: Molecular cytogenetics
Published: June 27, 2014
The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome.
Journal: Pediatric radiology
Published: June 21, 2012
17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature.
Journal: Journal of pediatric genetics
Published: June 01, 2012
Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.
Journal: Clinical genetics
Published: April 18, 2012
Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion.
Journal: American journal of medical genetics. Part A
Published: March 28, 2012
Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism.
Journal: Journal of pediatric genetics
Published: March 01, 2012
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
Journal: American journal of medical genetics. Part A
Published: January 22, 2012
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Last Updated: 09/26/2026