Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Meckel syndrome type 13 is an autosomal recessive disorder caused by mutations in the TMEM107 gene.
Meckel syndrome
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Meckel syndrome 02
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Meckel syndrome 03
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Meckel syndrome 05
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Meckel syndrome 06
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Meckel syndrome 08
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Meckel syndrome 09
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Meckel syndrome 10
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Meckel syndrome 11
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Meckel syndrome 13
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TMEM107
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| 1. |
Christopher KJ et al. (2012) Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. 
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| 2. |
Shaheen R et al. (2015) Identification of a novel MKS locus defined by TMEM107 mutation.
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| 3. |
Lambacher NJ et al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
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| 4. |
OMIM.ORG article Omim 617562
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