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Article

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

American journal of medical genetics. Part A - 15 Jul 2004

Miyake Noriko, Harada Naoki, Shimokawa Osamu, Ohashi Hirofumi, Kurosawa Kenji, Matsumoto Tadashi, Fukushima Yoshimitsu, Nagai Toshiro, Shotelersuk Vorasuk, Yoshiura Ko-Ichiro, Ohta Tohru, Kishino Tatsuya, Niikawa Norio, Matsumoto Naomichi

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Identifiers

PMID: 15214010
DOI: 10.1002/ajmg.a.30137

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Related research

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On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.PMID 15214010Read ↗

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Unmasking the challenges of Kabuki syndrome in adulthood: A case series.Semantic proximity Read ↗

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Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.Semantic proximity Read ↗

Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.Semantic proximity Read ↗

8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features.Semantic proximity Read ↗

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