Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly - Université de Bourgogne Accéder directement au contenu
Autre Publication Scientifique Clinical Genetics Année : 2018

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

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hal-01737178 , version 1 (19-03-2018)

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A.‐l. Bruel, J. Thevenon, F. Huet, N. Jean‐marcais, S. Odent, et al.. Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. 2018, ⟨10.1111/cge.13211⟩. ⟨hal-01737178⟩
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