Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.

Whittock, Neil V; Turnpenny, Peter D; Tuerlings, Joep; Ellard, Sian

Whittock, Neil V; Turnpenny, Peter D; Tuerlings, Joep; Ellard, Sian.

Affiliation

Whittock NV; Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK.

Prenat Diagn ; 23(7): 575-9, 2003 Jul.

Article in En | MEDLINE | ID: mdl-12868087

Subject(s)

Dysostoses/diagnosis; Dysostoses/genetics; Fetal Diseases/diagnosis; Fetal Diseases/genetics; Prenatal Diagnosis; Spine/abnormalities; Adult; Chorionic Villi Sampling; Consanguinity; Dysostoses/diagnostic imaging; Dysostoses/embryology; Female; Fetal Diseases/diagnostic imaging; Genetic Testing; Humans; Male; Mutation; Pedigree; Pregnancy; Pregnancy Trimester, First; Radiography; Spine/diagnostic imaging; Spine/embryology; Turkey; Ultrasonography, Prenatal; White People/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Prenatal Diagnosis / Spine / Dysostoses / Fetal Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Pregnancy Country/Region as subject: Asia Language: En Journal: Prenat Diagn Year: 2003 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom

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