Total: 1 |
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PMID (PMCID) | ||
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28777491 (5843189) |
MIXED_SAMPLE | Child |
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. | ||
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC, , Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Am J Med Genet A. 2017;173(10):2763-2771. |
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The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis. |