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Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.
Clin Genet. 2011 Apr;79(4):371-7. doi: 10.1111/j.1399-0004.2010.01465.x.
Clin Genet. 2011.
PMID: 20569257
ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.
Nizon M, Küry S, Péréon Y, Besnard T, Quinquis D, Boisseau P, Marsaud T, Magot A, Mussini JM, Mayrargue E, Barbarot S, Bézieau S, Isidor B.
Nizon M, et al. Among authors: marsaud t.
Clin Genet. 2018 Jan;93(1):169-172. doi: 10.1111/cge.13048. Epub 2017 Aug 31.
Clin Genet. 2018.
PMID: 28471035
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