M. Kufner < M. Leipoldt < M. Lienhard Schmitz

Facettes : Author.f AffOrg.f AffPays.f AffRegion.f AffVille.f Teeft.f

List of bibliographic references indexed by M. Leipoldt

Number of relevant bibliographic references: 1.

Ident.	Authors (with country if any)	Title
000823 (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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List of associated KwdEn.i

Nombre de documents	Descripteur
1	FISH, fluorescence in situ hybridisation
1	OMIM, Online Mendelian Inheritance in Man
1	Okihiro syndrome
1	SALL4
1	SNP, single nucleotide polymorphism
1	acro-renal-ocular syndrome
1	haploinsufficiency

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