Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

doi:10.1002/ajmg.a.38375

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Article

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

American journal of medical genetics. Part A - 1 Oct 2017

Telegrafi Aida, Webb Bryn D, Robbins Sarah M, Speck-Martins Carlos E, FitzPatrick David, Fleming Leah, Redett Richard, Dufke Andreas, Houge Gunnar, van Harssel Jeske J T, Verloes Alain, Robles Angela, Manoli Irini, Engle Elizabeth C, Jabs Ethylin W, Valle David, Carey John, Hoover-Fong Julie E, Sobreira Nara L M

Abstract excerpt

Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3...

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PMID: 28777491
DOI: 10.1002/ajmg.a.38375
PMCID: PMC5843189

Genes

STAC3

Variants

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

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