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Documents DiGeorge Syndrome: a not so rare disease

CLINICAL SCIENCE DiGeorge Syndrome: a not so rare disease Angela BF Fomin,I Antonio Carlos Pastorino,I Chong Ae Kim,II Alexandre C Pereira,III Magda Carneiro- Sampaio,I Cristina

Documents Detection of 22q11.2 Hemizygous Deletion by Interphase FISH in a Patient with Features of CATCH22...

case reports.p65CASE REPORTS Detection of 22q11.2 Hemizygous Deletion by Interphase FISH in a Patient with Features of CATCH22 Syndrome We report an eight years female child

Documents Practical guidelines for managing adults with 22q11.2 deletion syndrome

Practical guidelines for managing adults with 22q11.2 deletion syndrome© American College of Medical Genetics and Genomics Review For individuals with 22q11.2 deletion