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Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8.
Am J Med Genet A. 2016.
PMID: 27605097
Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome.
Satre V, Monnier N, Devillard F, Amblard F, Lunardi J.
Satre V, et al.
Prenat Diagn. 2004 Nov;24(11):913-7. doi: 10.1002/pd.1031.
Prenat Diagn. 2004.
PMID: 15565644
OBJECTIVES: We report on a prenatal diagnosis of DMD complicated by a 45,X karyotype that was revealed only in the chorionic villus long-term culture. METHODS: Cytogenetic investigations were performed on both short-term (STC) and long-term cultures (LTC) of …
OBJECTIVES: We report on a prenatal diagnosis of DMD complicated by a 45,X karyotype that was revealed only in the chorionic villus long- …
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