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Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20.
Hum Genet. 2015.
PMID: 25792360
Clinical Trial.
Genetic Mutations, Birth Lengths, Weights and Head Circumferences of Children with IGF-I Receptor Defects. Comparison with other Congenital Defects in the GH/IGF-I axis.
Essakow JL, Lauterpacht A, Lilos P, Kauli R, Laron Z.
Essakow JL, et al.
Pediatr Endocrinol Rev. 2016 Sep;14(1):19-26. doi: 10.17458/PER.2016.ELLKL.GeneticMutations.
Pediatr Endocrinol Rev. 2016.
PMID: 28508613
Review.
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