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Article

Williams Syndrome: development of a new scoring system for clinical diagnosis.

Clinics (Sao Paulo, Brazil) - 1 Apr 2007

Sugayama Sofia Mizuho Miura, Leone Cláudio, Chauffaille Maria de Lourdes Lopes Ferrari, Okay Thelma Suely, Kim Chong Ae

Abstract excerpt

OBJECTIVE: To develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of William syndrome and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed. METHODS: The fluorescent in-situ hybridization test was performed on 20 patients presenting William syndrome suggestive clinical features. Eleven studies were selected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17505701
DOI: 10.1590/s1807-59322007000200011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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