The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.

Autor: Thaweesapphithak, Sermporn¹ (AUTHOR), Termteerapornpimol, Kittipat¹ (AUTHOR), Wongsirisuwan, Siriwong¹ (AUTHOR), Chantarangsu, Soranun² (AUTHOR), Porntaveetus, Thantrira^1,3 (AUTHOR) thantrira.p@chula.ac.th

Publikováno v: Journal of Translational Medicine. 12/3/2024, Vol. 22 Issue 1, p1-16. 16p.

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review

Autor: Sermporn Thaweesapphithak, Kittipat Termteerapornpimol, Siriwong Wongsirisuwan, Soranun Chantarangsu, Thantrira Porntaveetus

Publikováno v: Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-16 (2024)

Abstract Cleidocranial Dysplasia (CCD) is a rare genetic disorder characterized by skeletal abnormalities and dental anomalies, primarily caused by variants in the RUNX2 gene. Understanding the spectrum of RUNX2 variants and their effects on CCD phen

Externí odkaz: https://doaj.org/article/96ddd449bbb34dd6ae60a8decaa89c51

A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.

Autor: Cissé, Lassana¹ (AUTHOR) lassciss@gmail.com, Yalcouyé, Abdoulaye² (AUTHOR), Touré, Kadidia Oumar^2,3 (AUTHOR), Coulibaly, Youlouza⁴ (AUTHOR), Maiga, Alassane Baneye² (AUTHOR), Bamba, Salia² (AUTHOR), Diallo, Dramane⁵ (AUTHOR), Diarra, Salimata^2,6 (AUTHOR), Taméga, Abdoulaye² (AUTHOR), Traoré, Oumou² (AUTHOR), Kotioumbé, Mahamadou² (AUTHOR), Sangaré, Moussa Aly² (AUTHOR), Ba, Hamidou Oumar^2,7 (AUTHOR), Simaga, Assiatou^2,8 (AUTHOR), Koné, Fatogoma Issa^2,9 (AUTHOR), Samassekou, Oumar² (AUTHOR), Koné, Amadou^2,5 (AUTHOR), Guinto, Cheick Oumar^1,2 (AUTHOR), Landouré, Guida^1,2 (AUTHOR)

Publikováno v: Clinical Case Reports. Feb2024, Vol. 12 Issue 2, p1-6. 6p.

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A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl

Autor: Lassana Cissé, Abdoulaye Yalcouyé, Kadidia Oumar Touré, Youlouza Coulibaly, Alassane Baneye Maiga, Salia Bamba, Dramane Diallo, Salimata Diarra, Abdoulaye Taméga, Oumou Traoré, Mahamadou Kotioumbé, Moussa Aly Sangaré, Hamidou Oumar Ba, Assiatou Simaga, Fatogoma Issa Koné, Oumar Samassekou, Amadou Koné, Cheick Oumar Guinto, Guida Landouré, the H3Africa consortium

Publikováno v: Clinical Case Reports, Vol 12, Iss 2, Pp n/a-n/a (2024)

Key Clinical Message Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in

Externí odkaz: https://doaj.org/article/3d1bcdfff01a4e70b7d6c92ffddb67c7