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Clinical vignette
Published online: 2024-07-29
More than three years’ treatment response of recombinant human growth hormone in a patient with Coffin-Siris syndrome 7
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DOI: 10.5603/ep.100454
Abstract
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Keywords: Coffin-Siris syndrome 7DPF2recombinant human growth hormonedrug safetyshort staturephenotypegenotype
References
- Vasileiou G, Vergarajauregui S, Endele S, et al. Deciphering Developmental Disorders Study. Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018; 102(3): 468–479.
- Milone R, Gnazzo M, Stefanutti E, et al. A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined. Brain Dev. 2020; 42(2): 192–198.
- Knapp KM, Poke G, Jenkins D, et al. Expanding the phenotypic spectrum associated with DPF2: A new case report. Am J Med Genet A. 2019; 179(8): 1637–1641.
- He S, Wu Z, Tian Y, et al. Structure of nucleosome-bound human BAF complex. Science. 2020; 367(6480): 875–881.
