Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominan...

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Veröffentlicht in:	European journal of human genetics : EJHG 2019-04, Vol.27 (4), p.525-534
Hauptverfasser:	Holder-Espinasse, Muriel, Jamsheer, Aleksander, Escande, Fabienne, Andrieux, Joris, Petit, Florence, Sowinska-Seidler, Anna, Socha, Magdalena, Jakubiuk-Tomaszuk, Anna, Gerard, Marion, Mathieu-Dramard, Michèle, Cormier-Daire, Valérie, Verloes, Alain, Toutain, Annick, Plessis, Ghislaine, Jonveaux, Philippe, Baumann, Clarisse, David, Albert, Farra, Chantal, Colin, Estelle, Jacquemont, Sébastien, Rossi, Annick, Mansour, Sahar, Ghali, Neeti, Moncla, Anne, Lahiri, Nayana, Hurst, Jane, Pollina, Elena, Patch, Christine, Ahn, Joo Wook, Valat, Anne-Sylvie, Mezel, Aurélie, Bourgeot, Philippe, Zhang, David, Manouvrier-Hanu, Sylvie
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aplasia Child, Preschool Chromosome 10 Chromosome 12 Chromosome 2 Chromosome 3 Chromosomes, Human, Pair 10 - genetics Comparative Genomic Hybridization - methods Corpus callosum Dlx5 protein Dysplasia F-Box Proteins - genetics Female Gene Rearrangement - genetics Gene regulation Genetic Predisposition to Disease Genetics Hand Deformities, Congenital - diagnostic imaging Hand Deformities, Congenital - genetics Hand Deformities, Congenital - physiopathology Heredity Human genetics Humans Hydrocephalus Hypogonadism Infant Life Sciences Limb Deformities, Congenital - diagnostic imaging Limb Deformities, Congenital - genetics Limb Deformities, Congenital - physiopathology Long bone Male Morphogenesis Neonates Pedigree Phenotype Phenotypes Proteasome Endopeptidase Complex - genetics Proto-Oncogene Proteins - genetics Radiography Review Segmental Duplications, Genomic - genetics Skin Wnt Proteins - genetics Young Adult
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