Publications:

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.

Genes

Kantaputra, Piranit P; Dejkhamron, Prapai P; Sittiwangkul, Rekwan R; Katanyuwong, Kamornwan K; Ngamphiw, Chumpol C; Sonsuwan, Nuntigar N; Intachai, Worrachet W; Tongsima, Sissades S; Beales, Philip L PL; Buranaphatthana, Worakanya W

Publication Date: 2022-12-27

Variant appearance in text: BBS7: 389_390delAC; rs863224530

PubMed Link: 36672825

Variant Present in the following documents:

• Main text
• genes-14-00084.pdf

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Retinal dystrophies: A look beyond the eyes.

American Journal Of Ophthalmology Case Reports

Tang, Vincent Duong VD; Egense, Alena A; Yiu, Glenn G; Meyers, Elijah E; Moshiri, Ala A; Shankar, Suma P SP

Publication Date: 2022-09

Variant appearance in text: BBS7: 389_390del; Asn130Thrfs*4

PubMed Link: 35756836

Variant Present in the following documents:

• Main text
• main.pdf

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Kidney failure in Bardet-Biedl syndrome.

Clinical Genetics

Meyer, Jennifer R JR; Krentz, Anthony D AD; Berg, Richard L RL; Richardson, Jesse G JG; Pomeroy, Jeremy J; Hebbring, Scott J SJ; Haws, Robert M RM

Publication Date: 2022-04

Variant appearance in text: BBS7: 389_390del; Asn130Thrfs*4

PubMed Link: 35112343

Variant Present in the following documents:

• Main text
• CGE-101-429.pdf

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