Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

Cockayne syndrome is a multi-systemic, autosomal recessive disease characterised by postnatal growth failure and progressive multi-organ dysfunction. The main clinical features are severe dwarfism (

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Bibliographische Detailangaben
Veröffentlicht in:	Archives of disease in childhood 2006-02, Vol.91 (2), p.178-182
Hauptverfasser:	Pasquier, L, Laugel, V, Lazaro, L, Dollfus, H, Journel, H, Edery, P, Goldenberg, A, Martin, D, Heron, D, Le Merrer, M, Rustin, P, Odent, S, Munnich, A, Sarasin, A, Cormier-Daire, V
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Biological and medical sciences Cardiomyopathy Cataracts Cells, Cultured Child Child, Preschool Cockayne syndrome Cockayne Syndrome - diagnosis Cockayne Syndrome - psychology Developmental Disabilities - diagnosis Diagnosis DNA repair Enophthalmos - diagnosis Female Fetal Growth Retardation - diagnosis Fibroblasts General aspects Growth Disorders - diagnosis Humans Infant Laboratories Male Medical sciences mental retardation Microcephaly Miscellaneous Mutation Patients Phenotype Pregnancy Prenatal diagnosis Prevention and actions Psychomotor Performance Public health. Hygiene Public health. Hygiene-occupational medicine Short Report White people Whites
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Beschreibung
Zusammenfassung:	Cockayne syndrome is a multi-systemic, autosomal recessive disease characterised by postnatal growth failure and progressive multi-organ dysfunction. The main clinical features are severe dwarfism (
ISSN:	0003-9888 1468-2044
DOI:	10.1136/adc.2005.080473