Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Growth retardation, developmental delay, facial dysmorphism is an autosomal recessive disorder caused by mutations of the FTO gene.
Syndromic growth retardation
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Growth retardation with developmental delay and facial dysmorphism
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FTO
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Short stature, developmental delay, and congenital heart defects
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| 1. |
Boissel S et al. (2009) Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. 
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| 2. |
Daoud H et al. (2016) Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.
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| 3. |
OMIM.ORG article Omim 612938
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