Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive disorder of glycosylation caused by mutations of the ALG9. The renal phenotype includes a Potter type 1 polycystic kidneys.
Congenital disorder of glycosylation
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Congenital disorder of glycosylation 1A
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Congenital disorder of glycosylation 1L
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Congenital disorder of glycosylation 1N
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Gillessen-Kaesbach-Nishimura syndrome
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ALG9
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| 1. |
Tham E et al. (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. 
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| 2. |
Gillessen-Kaesbach G et al. (1993) New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.
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| 3. |
Nishimura G et al. (1998) A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents.
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| 4. |
Hallermann C et al. (2000) Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.
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| 5. |
OMIM.ORG article Omim 263210
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