Gerarda Cappuccio to Facies
This is a "connection" page, showing publications Gerarda Cappuccio has written about Facies.
Connection Strength
0.759
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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395.
Score: 0.188
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A pilot clinical trial with losartan in Myhre syndrome. Am J Med Genet A. 2021 03; 185(3):702-709.
Score: 0.175
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. Genet Med. 2020 11; 22(11):1838-1850.
Score: 0.170
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Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review. Am J Med Genet A. 2014 Mar; 164A(3):753-9.
Score: 0.108
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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. Am J Med Genet C Semin Med Genet. 2024 Dec; 196(4):e32089.
Score: 0.056
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A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. Am J Med Genet A. 2018 02; 176(2):426-430.
Score: 0.035
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A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. Am J Med Genet A. 2014 Jan; 164A(1):190-3.
Score: 0.027