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SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.
Borozdin, W; Boehm, D; Leipoldt, M; Wilhelm, C; Reardon, W; Clayton-Smith, J; Becker, K; Mühlendyck, H; Winter, R; Giray, O; Silan, F; Kohlhase, J.
Affiliation
  • Borozdin W; Institut für Humangenetik und Anthropologie, Universität Freiburg, Breisacher Str 33, D-79106 Freiburg, Germany.
J Med Genet ; 41(9): e113, 2004 Sep.
Article in En | MEDLINE | ID: mdl-15342710

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Abnormalities, Multiple / Duane Retraction Syndrome / Sequence Deletion Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2004 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Abnormalities, Multiple / Duane Retraction Syndrome / Sequence Deletion Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2004 Document type: Article