Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

European Journal of Human Genetics

Volumn 13, Issue 5, 2005, Pages 541-546

  Geneviève, David ^a   Héron, Delphine ^b   El Ghouzzi, Vincent ^a   Prost Squarcioni, Catherine ^c   Le Merrer, Martine ^a   Jacquette, Aurélia ^b   Sanlaville, Damien ^a   Pinton, Florence ^d   Villeneuve, Nathalie ^d   Kalifa, Gabriel ^d   Munnich, Arnold ^a   Cormier Daire, Valérie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c AVICENNE HOSPITAL   (France)

^d HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

Autosomal recessive; Mental retardation; Spondyloepimetaphyseal dysplasia

Indexed keywords

ADENOSINE 3' PHOSPHATE 5' PHOSPHOSULFATE SYNTHASE 2; SYNTHETASE; UNCLASSIFIED DRUG;

ALLELIC EXCLUSION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; ELECTRON MICROSCOPY; FACE DYSMORPHIA; FEMALE; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC INCOMPATIBILITY; HIRSUTISM; HUMAN; LABORATORY TEST; MENTAL DEFICIENCY; MICROCEPHALY; PAKISTAN; PRIORITY JOURNAL; SKELETON MALFORMATION; SKIN BIOPSY; SPONDYLOEPIMETAPHYSEAL DYSPLASIA; SYMPTOMATOLOGY;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INBREEDING; MENTAL RETARDATION; MICROCEPHALY; MICROSCOPY, ELECTRON; MULTIENZYME COMPLEXES; PROTEINS; SKIN; SULFATE ADENYLYLTRANSFERASE; SYNDROME;

ATAXIA;

EID: 21044456862     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201339     Document Type: Article

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