Publications:

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: DNAH11: P355P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bartoloni, Lucia L; Blouin, Jean-Louis JL; Pan, Yanzhen Y; Gehrig, Corinne C; Maiti, Amit K AK; Scamuffa, Nathalie N; Rossier, Colette C; Jorissen, Mark M; Armengot, Miguel M; Meeks, Maggie M; Mitchison, Hannah M HM; Chung, Eddie M K EM; Delozier-Blanchet, Celia D CD; Craigen, William J WJ; Antonarakis, Stylianos E SE

Publication Date: 2002-08-06

Variant appearance in text: DNAH11: P355P

PubMed Link: 12142464

Variant Present in the following documents:

• Main text

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