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Keywords: ANKRD11
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Journal Articles

Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant

Subject Area:
Genetics
Duygu Çetinkaya, Mustafa Altan, Ahmet Cevdet Ceylan, Esra Kılıç
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000543396
Published Online: 03 January 2025
..., ptosis, anteverted nostrils, long philtrum, and thin and downward sloping vermilion. The syndrome is caused by mutations in NIPBL , SMC1A , SMC3 , RAD21 , HDAC8 , and ANKRD11 genes encoding cohesin complex proteins that maintain a chromatin structure in cell proliferation. In recently reported cases, new...
View articletitled, Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant
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Journal Articles

Novel Mutations and Unreported Clinical Features in KBG Syndrome

Subject Area:
Topic Article Package: Moksha , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Emanuela Scarano, Martina Tassone, Claudio Graziano, Dino Gibertoni, Federica Tamburrino, Annamaria Perri, Maria Gnazzo, Giulia Severi, Francesca Lepri, Laura Mazzanti
Journal: Molecular Syndromology
Mol Syndromol (2019) 10 (3): 130–138.
https://doi.org/10.1159/000496172
Published Online: 15 January 2019
...Emanuela Scarano; Martina Tassone; Claudio Graziano; Dino Gibertoni; Federica Tamburrino; Annamaria Perri; Maria Gnazzo; Giulia Severi; Francesca Lepri; Laura Mazzanti KBG syndrome is an autosomal dominant disorder caused by pathogenic variants within ANKRD11 or deletions of 16q24.3 which include...
View articletitled, Novel Mutations and Unreported Clinical Features in KBG Syndrome
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