| acids < acro < action | Facettes : |
List of bibliographic references
Number of relevant bibliographic references: 2.| Ident. | Authors (with country if any) | Title |
|---|---|---|
| 000041 (2005) | Jürgen Kohlhase [Allemagne] ; David Chitayat [Canada] ; Dieter Kotzot [Autriche] ; Serdar Ceylaner [Turquie] ; Ursula G. Froster [Allemagne] ; Sigrun Fuchs [Allemagne] ; Tara Montgomery [Royaume-Uni] ; Bernd Rösler [Allemagne] | SALL4 mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders |
| 000051 (2004) | W. Borozdin [Allemagne] ; D. Boehm [Allemagne] ; M. Leipoldt [Allemagne] ; C. Wilhelm [Allemagne] ; W. Reardon [Irlande (pays)] ; J. Clayton-Smith [Royaume-Uni] ; K. Becker [Royaume-Uni] ; H. Mühlendyck [Allemagne] ; R. Winter [Royaume-Uni] ; Ö Giray [Turquie] ; F. Silan [Turquie] ; J. Kohlhase [Allemagne] | SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism |
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