<i>SALL4</i> Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary
Published 2023 View Full Article
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Title
<i>SALL4</i> Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary
Authors
Keywords
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Journal
Hormone Research in Paediatrics
Volume -, Issue -, Pages 1-8
Publisher
S. Karger AG
Online
2023-10-12
DOI
10.1159/000531996
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Note: Only part of the references are listed.- Integrative Role of the <i>SALL4</i> Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary
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- Novel frameshift variant in gene SALL4 causing Okihiro syndrome
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- Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay
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- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
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- Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations
- (2010) Stepanka Pruhova et al. PEDIATRIC DIABETES
- Fast and accurate short read alignment with Burrows-Wheeler transform
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- Nonsense-mediated mRNA decay (NMD) mechanisms
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