Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Source :

• Journal of Medical Genetics [ 0022-2593 ] ; 2011-02.

English descriptors

• KwdEn :
  • Abnormal, Abnormal hips, Beemer, Brazilian northeast, Case report, Cilium, Cleft, Coding exons, Compound heterozygosity, Consanguineous families, Dysplasia, Dysplasia spectrum, Ethnic background, Exon, Fetus, Gene encoding, Genet, Growth plate, Haplotype analysis, Haplotype study, Hopital robert debre, Hypoplasia, Hypoplasia pubis, Inclusion criteria, Intestinal malrotation, Irregular metaphyses, Jeune, Jeune dysplasia, Jeune syndrome, Lethal form, Lethal forms, Lethal group, Long bone, Long bones, Majewski, Metaphyseal irregularity, Molecular basis, Multicystic kidneys, Mutation, Narrow thorax, Ndings, Necker hospital, Parental consanguinity, Partial loss, Phenotype, Polydactyly, Postaxial, Postaxial polydactyly, Preaxial, Preaxial polydactyly, Prenatal ultrasound examination, Pulmonary hypoplasia, Radiological, Radiological features, Radiological similarities, Recurrent sibs, Rib, Short bone, Short limbs, Short ribs, Short syndrome, Single mutation, Skeletal dysplasias, Small cities, Smooth ends, Syndrome, Thoracic, Trident, Trident appearance, Tubular bones, Typical radiological features, Verma.
• Teeft :
  • Abnormal, Abnormal hips, Beemer, Brazilian northeast, Case report, Cilium, Cleft, Coding exons, Compound heterozygosity, Consanguineous families, Dysplasia, Dysplasia spectrum, Ethnic background, Exon, Fetus, Gene encoding, Genet, Growth plate, Haplotype analysis, Haplotype study, Hopital robert debre, Hypoplasia, Hypoplasia pubis, Inclusion criteria, Intestinal malrotation, Irregular metaphyses, Jeune, Jeune dysplasia, Jeune syndrome, Lethal form, Lethal forms, Lethal group, Long bone, Long bones, Majewski, Metaphyseal irregularity, Molecular basis, Multicystic kidneys, Mutation, Narrow thorax, Ndings, Necker hospital, Parental consanguinity, Partial loss, Phenotype, Polydactyly, Postaxial, Postaxial polydactyly, Preaxial, Preaxial polydactyly, Prenatal ultrasound examination, Pulmonary hypoplasia, Radiological, Radiological features, Radiological similarities, Recurrent sibs, Rib, Short bone, Short limbs, Short ribs, Short syndrome, Single mutation, Skeletal dysplasias, Small cities, Smooth ends, Syndrome, Thoracic, Trident, Trident appearance, Tubular bones, Typical radiological features, Verma.

Abstract

• https://api.istex.fr/document/C531FE51896474F7A4BA6C32CE98B59D004FA3A7/fulltext/pdf

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