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Article

Phenotypic spectrum and management issues in Kabuki syndrome.

The Journal of pediatrics - 1 Apr 1999

Kawame H, Hannibal M C, Hudgins L, Pagon R A

Abstract excerpt

OBJECTIVE: To report the phenotypic spectrum and management issues of children with Kabuki syndrome (Niikawa-Kuroki syndrome) from North America. DESIGN: A case series of children (n = 18) with clinical findings of Kabuki syndrome. SETTING: Medical genetics clinics in Washington, Alaska, and Arizona. RESULTS: Most patients had postnatal growth retardation, and all had developmental delay and hypotonia. Feeding...

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Identifiers

PMID: 10190924
DOI: 10.1016/s0022-3476(99)70207-6

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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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Phenotypic spectrum and management issues in Kabuki syndrome.PMID 10190924Read ↗

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Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.Semantic proximity Read ↗

Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.Semantic proximity Read ↗

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