SchutzV1, Main, Exploration, bibRecord, 000823

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

Identifieur interne : 000823 ( Main/Exploration ); précédent : 000822; suivant : 000824

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

Auteurs : 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]

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 2004-09.

RBID : ISTEX:56445E08A50DD2A612F7F16EC879584549D88948

English descriptors

KwdEn :
- FISH, fluorescence in situ hybridisation, OMIM, Online Mendelian Inheritance in Man, Okihiro syndrome, SALL4, SNP, single nucleotide polymorphism, acro-renal-ocular syndrome, haploinsufficiency.

Url:

https://api.istex.fr/document/56445E08A50DD2A612F7F16EC879584549D88948/fulltext/pdf

DOI: 10.1136/jmg.2004.019901

Affiliations:

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Le document en format XML

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SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

Source :

English descriptors

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri