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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

Nat Genet 40:155-7 (2008)
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Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.

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Am J Hum Genet 81:530-9 (2007)
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Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

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Eur J Hum Genet 21:637-42 (2013)
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Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

Hum Mol Genet 23:6584-93 (2014)
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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Hum Mol Genet 23:2279-89 (2014)
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Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

Am J Hum Genet 96:955-61 (2015)
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Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Hum Mol Genet 25:1824-35 (2016)
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Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Am J Hum Genet 99:928-933 (2016)
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