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Fetal phenotypes in otopalatodigital spectrum disorders

Archive ouverte | Naudion, S. | CCSD

International audience. Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick–Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are ...

Re-focusing on Agnathia-Otocephaly complex

Archive ouverte | Dubucs, C. | CCSD

International audience. Objectives: Agnathia-otocephaly complex is a rare condition characterized by mandibular hypoplasia or agnathia, ear anomalies (melotia/synotia) and microstomia with aglossia. This severe anom...

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

Archive ouverte | Lefebvre, M. | CCSD

International audience. PURPOSE: Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagn...

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