Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations

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Bibliographic Details
Published inPediatric nephrology (Berlin, West) Vol. 25; no. 11; pp. 2375 - 2376
Main Authors Seeman, Tomáš, Seemanová, Eva, Nuernberg, Gudrun, Nuernberg, Peter, Janssen, Sabine, Otto, Edgar A.
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer-Verlag 01.11.2010
Springer
Springer Nature B.V
Subjects
Case-Control Studies
Child, Preschool
Diseases in Twins - genetics
Diseases in Twins - physiopathology
Female
Genetic aspects
Genetic research
Humans
Infant
Infant, Newborn
Intellectual Disability - genetics
Intellectual Disability - physiopathology
Kidney diseases
Letter to the Editors
Liver Diseases - genetics
Liver Diseases - physiopathology
Male
Medicine
Medicine & Public Health
Membrane Proteins - genetics
Mental illness
Mental retardation
Mutation, Missense
Nephrology
Pediatrics
Polycystic Kidney Diseases - genetics
Polycystic Kidney Diseases - physiopathology
Twins, Monozygotic
Urology
Czech Republic
Liver Fibrosis
Joubert Syndrome
Single Nucleotide Polymorphism Array
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma
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Bibliography:SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ObjectType-Commentary-2
ObjectType-Article-3
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-010-1591-1