Publications:

Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.

Molecular Genetics & Genomic Medicine

Lertwilaiwittaya, Pongtawat P; Suktitipat, Bhoom B; Khongthon, Phongphak P; Pongsapich, Warut W; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2021-07

Variant appearance in text: RANKL: 532+4_532+8del

PubMed Link: 34056870

Variant Present in the following documents:

• Main text
• MGG3-9-e1727.pdf

View BVdb publication page

Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.

Molecular Genetics & Genomic Medicine

Lertwilaiwittaya, Pongtawat P; Suktitipat, Bhoom B; Khongthon, Phongphak P; Pongsapich, Warut W; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2021-07

Variant appearance in text: RANKL: 532+4_532+8del

PubMed Link: 34056870

Variant Present in the following documents:

• Main text
• MGG3-9-e1727.pdf

View BVdb publication page

RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease.

Clinical & Developmental Immunology

Lo Iacono, Nadia N; Pangrazio, Alessandra A; Abinun, Mario M; Bredius, Robbert R; Zecca, Marco M; Blair, Harry C HC; Vezzoni, Paolo P; Villa, Anna A; Sobacchi, Cristina C

Publication Date: 2013

Variant appearance in text: RANKL: 532+4_532+8del

PubMed Link: 23762088

Variant Present in the following documents:

• Main text

View BVdb publication page