Publications:

Polydactyly: Clinical and molecular manifestations.

World Journal Of Orthopedics

Kyriazis, Zisis Z; Kollia, Panagoula P; Grivea, Ioanna I; Stefanou, Nikolaos N; Sotiriou, Sotirios S; Dailiana, Zoe H ZH

Publication Date: 2023-01-18

Variant appearance in text: BBS7: 1636C>T; Q546X

PubMed Link: 36686282

Variant Present in the following documents:

• WJO-14-13.pdf

View BVdb publication page

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet-Biedl Syndrome.

Case Reports In Ophthalmological Medicine

Dehghan, Roghayeh R; Behnam, Mahdiyeh M; Salehi, Mansoor M; Kelishadi, Roya R

Publication Date: 2022

Variant appearance in text: BBS7: 1636C>T; Q546X

PubMed Link: 35912300

Variant Present in the following documents:

• CRIOPM2022-6110775.pdf

View BVdb publication page