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Year | Number of Results |
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2007 | 1 |
2018 | 1 |
2024 | 0 |
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A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome.
Am J Med Genet A. 2018 Dec;176(12):2824-2828. doi: 10.1002/ajmg.a.40532. Epub 2018 Dec 14.
Am J Med Genet A. 2018.
PMID: 30549413
Review.
Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogeneticiens de langue Francaise'.
Béri-Deixheimer M, Gregoire MJ, Toutain A, Brochet K, Briault S, Schaff JL, Leheup B, Jonveaux P.
Béri-Deixheimer M, et al.
Eur J Hum Genet. 2007 Apr;15(4):446-52. doi: 10.1038/sj.ejhg.5201784. Epub 2007 Feb 7.
Eur J Hum Genet. 2007.
PMID: 17290276
Our study gives important information by defining the size of imbalance and better predicting the phenotype. Two clinically distinct phenotypes may be drawn, a mild mental retardation or a more complex and severe phenotype, according to the presence or absence of the CHRNA …
Our study gives important information by defining the size of imbalance and better predicting the phenotype. Two clinically distinct …
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