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Article

Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care

8 Apr 2014

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 24721633
DOI: 10.1016/j.ejmg.2014.03.014

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Related research

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Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional carePMID 24721633Read ↗

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective studySemantic proximity Read ↗

Functional outcomes of adults with 22q11.2 deletion syndromeSemantic proximity Read ↗

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.Semantic proximity Read ↗

Practical Guidelines for Managing Patients with 22q11.2 Deletion SyndromeSemantic proximity Read ↗

Practical guidelines for managing adults with 22q11.2 deletion syndromeSemantic proximity Read ↗

Molecular and clinical study of 183 patients with conotruncal anomaly face syndromeSemantic proximity Read ↗

Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defectsSemantic proximity Read ↗

[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].Semantic proximity Read ↗

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!Semantic proximity Read ↗

Phenotype of adults with the 22q11 deletion syndrome: A review.Semantic proximity Read ↗

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literatureSemantic proximity Read ↗

Laryngeal abnormalities are frequent in the 22q11 deletion syndromeSemantic proximity Read ↗

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